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The objectivity of physical and electrodiagnostic tests is limited in detecting carpal tunnel syndrome and its recurrence. Predicting the median nerve blood supply using superb microvascular imaging will allow exact diagnosis and a good follow-up system. The aims of this study include using superb microvascular imaging to correlate with electromyographic diagnosis, and to determine the impact of surgery on improvement in superb microvascular imaging.Between July of 2019 and January of 2020, 32 wrists of 21 patients were evaluated prospectively. After preoperative electrodiagnostic studies and vascular index measurement with superb microvascular imaging, open carpal tunnel release was performed by a single surgeon, and 3 months later standardized superb microvascular imaging was performed. Preoperative vascular indexes were compared with the mild, moderate, and severe electrodiagnostic study results. Preoperative and postoperative vascular index results were compared.The average of the preoperative and postoperative imaging groups was 2.77 and 1.48, respectively, and there was a statistically significant difference between the two groups (p0.05). Although no significant difference was found between preoperative and postoperative vascular index values in patients presenting with mild carpal tunnel syndrome (p0.05), there was a significant decrease in vascular index values in patients presenting with moderate and severe carpal tunnel syndrome after surgical decompression.Superb microvascular imaging is emerging as a groundbreaking, new, and reliable technique. Evaluation of the median nerve blood supply is a reliable method that would be helpful for early diagnosis, planning treatment, determining the severity of carpal tunnel syndrome, and postoperative follow-up.Diagnostic, IV.

Patients with autosomal recessive protein kinase C delta (PKC delta) deficiency suffer from childhood-onset autoimmunity, including systemic lupus erythematosus. They also suffer from recurrent infections that overlap with those seen in patients with chronic granulomatous disease (CGD), a disease caused by defects of the phagocyte NADPH oxidase and a lack of reactive oxygen species (ROS) production. We studied an international cohort of 17 PKC delta-deficient patients and found that their EBV-B cells and monocyte-derived phagocytes produced only small amounts of ROS and did not phosphorylate p40(phox) normally after PMA or opsonized Staphylococcus aureus stimulation. Moreover, the patients' circulating phagocytes displayed abnormally low levels of ROS production and markedly reduced neutrophil extracellular trap formation, altogether suggesting a role for PKC delta in activation of the NADPH oxidase complex. Our findings thus show that patients with PKC delta deficiency have impaired NADPH oxidase activity in various myeloid subsets, which may contribute to their CGD-like infectious phenotype. Yale Center for Mendelian Genomics - National Human Genome Research Institute [UM1HG006504]; National Institute of Allergy and Infectious DiseasesUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Institute of Allergy & Infectious Diseases (NIAID) [5R01AI089970, 5R37AI095983, R01AI127564-01]; National Center for Research ResourcesUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Center for Research Resources (NCRR); National Center for Advancing Translational Sciences of the National Institutes of HealthUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Center for Advancing Translational Sciences (NCATS) [8UL1TR001866]; Rockefeller University; St. Giles Foundation; INSERMInstitut National de la Sante et de la Recherche Medicale (Inserm)European Commission; University of Paris; French Foundation for Medical ResearchFondation pour la Recherche Medicale [EQU201903007798]; Integrative Biology of Emerging Infectious Diseases Laboratory of Excellence [ANR-10-LABX-62-IBEID]; SCOR Corporate Foundation for Science; French National Research Agency (ANR) under the Investments for the future programFrench National Research Agency (ANR) [ANR-10-IAHU-01]; ANR-IFNPHOX [ANR-13-ISV3-0001-01]; ANR-GENMSMDFrench National Research Agency (ANR) [ANR-16-CE17-0005-01]; ANR-GENCMCD [ANR-11-BSV3-005-01]; ANR-HGDIFDFrench National Research Agency (ANR) [ANR-14-CE15-0006-01]; Bettencourt Schueller Foundation; International PhD program of the Imagine Institute; Japanese Foundation; EURO-CMC project [ANR-14-RARE-0005-02]; Societe Nationale Francaise de Medecine Interne (Bourse Marcel Simon); INSERM PhD program for medical doctors (poste d'accueil INSERM); Fulbright grant (Franco-American commission); MD-PhD program of Imagine Institute; Consejo Nacional de Ciencia y Tecnologa National PhD Fellowship Program; National Institute for Health Research Biomedical Research CentreNational Institute for Health Research (NIHR); Great Ormond Street Hospital Charity; Deutsche Forschungsgemeinschaft under Germany's Excellence StrategyGerman Research Foundation (DFG) [EXC 2155, 390874280]; REBIRTH Center for Translational Regenerative Medicine through the State of Lower Saxony [MWK: ZN3440] This paper is dedicated to the memory of Prof. Asghar Agha-mohammadi, who passed away in November 2020, and made immense contributions to the understanding and treatment of primary immunodeficiencies. We thank all patients, their relatives, and the treatment teams for their cooperation in this study. We thank all the members of the Laboratory of Human Genetics of Infectious Diseases for helpful discussions. We also thank Christine Rivalain, Cecile Pa-tissier, Lazaro Lorenzo-Diaz, Dominick Papandrea, Dana Liu, and Yelena Nemirovskaya for administrative assistance and Gaspard Kerner for statistical advice. We thank the Necker Institute Imaging Facility for technical advice. The graphical abstract was created with BioRender.com under subscription. This research was supported by the Yale Center for Mendelian Genomics funded by the National Human Genome Research Insti-tute (UM1HG006504) . The Howard Hughes Medical Institute lab-oratory was funded in part by the National Institute of Allergy and Infectious Diseases (grants 5R01AI089970, 5R37AI095983, and R01AI127564-01) , the National Center for Research Resources, and the National Center for Advancing Translational Sciences of the National Institutes of Health (grant 8UL1TR001866 for J-L. Casa-nova) , the Rockefeller University, the St. Giles Foundation, INSERM, the University of Paris, the French Foundation for MedicalResearch (EQU201903007798) , the Integrative Biology of Emerging Infectious Diseases Laboratory of Excellence (ANR-10-LABX-62-IBEID) , the SCOR Corporate Foundation for Science, and the French National Research Agency (ANR) under the Investments for the future program (grant ANR-10-IAHU-01) , ANR-IFNPHOX (grant ANR-13-ISV3-0001-01 for J. Bustamante) , ANR-GENMSMD (grant ANR-16-CE17-0005-01 for J. Bustamante) , ANR-GENCMCD (grant ANR-11-BSV3-005-01 for A. Puel) , and ANR-HGDIFD (grant ANR-14-CE15-0006-01 for J. Bustamante) . A-L. Neehus was sup-ported by the Bettencourt Schueller Foundation and the Interna-tional PhD program of the Imagine Institute, K. Moriya by a Japanese Foundation for Pediatric Research fellowship grant and EURO-CMC project (grant ANR-14-RARE-0005-02 for J. Bustamante) , R. Levy by the Societe Nationale Francaise de Medecine Interne (Bourse Marcel Simon) , the INSERM PhD program for medical doctors (poste d'accueil INSERM) , and the Fulbright grant (Franco-American commission) , T. Le Voyer by the Bettencourt Schueller Foundation and the MD-PhD program of Imagine Institute, and A. Nieto-Patlan by the Consejo Nacional de Ciencia y Tecnologa Na-tional PhD Fellowship Program. All research at the Great Ormond Street Hospital National Health Service Foundation Trust is sup-ported by the National Institute for Health Research Biomedical Research Centre. P.A. Brogan also acknowledges support from the Great Ormond Street Hospital Charity. N. Lachmann acknowledges support from the Deutsche Forschungsgemeinschaft under Ger-many's Excellence Strategy-EXC 2155-project number 390874280 and the REBIRTH Center for Translational Regenerative Medicine funded through the State of Lower Saxony (MWK: ZN3440) . Author contributions: A-L. Neehus, J-L. Casanova, A. Puel, and J. Bustamante conceived and designed the study. A-L. Neehus, K. Moriya, T. Le Voyer, A. Nieto-Patlan, R. Levy, M. Roynard, K. Haake, M. Migaud, and K. Dorgham performed the experiments. A. ozen, E. Karakoc-Aydiner, S. Baris, A. Yildiran, E. Altundag, F. Dogu, S. Has-kologlu, E. Ince, G. Uzel, A. Kiykim, K. Boztug, M.R. Roderick, M. Shahrooei, P.A. Brogan, H. Abolhassani, G. Hancioglu, N. Parvaneh, A.; Belot, and A. Ikinciogullari were the treating physicians respon-sible for clinical diagnosis, deep phenotyping, sample collection, and patient follow-up. G. Gorochov, L. Abel, N. Lachmann, J. El-Benna, and A. Belot provided conceptual advice. A-L. Neehus, J-L. Casanova, A. Puel, and J. Bustamante analyzed the results and wrote the man-uscript. All authors revised the manuscript and approved the final manuscript as submitted. Disclosures: P.A. Brogan reported personal fees from Sobi, No-vartis, Roche, and GSK, and grants from Sobi outside the sub-mitted work. No other disclosures were reported.

Tourette syndrome (TS) is a childhood-onset neurodevelopmental disorder characterized by several motor and phonic tics.In this study, we aimed to compare activated regulatory T cell (Treg) values between patients with TS/chronic tic disorder (CTD) and age- and sex-matched healthy controls (HCs).Patients with TS/CTD and age- and sex-matched HCs were included in the study. The severity of the disease was evaluated using the Yale Global Tic Severity Scale. CD4The study included 48 patients diagnosed with TS/CTD (36 males and 12 females, mean age: 11.58 ± 2.61) and 24 HCs (18 males and 6 females, mean age: 11.63 ± 2.60). The TS/CTD group had significantly higher activated regulatory T percentile with respect to the T helper value compared to the HCs (Our results suggest that Tregs may have a role in the pathogenesis of TS/CTD.

To determine the survival endpoints and treatment-related adverse events after the use of the gemcitabine, paclitaxel, and oxaliplatin (GemPOx) protocol in relapsed/refractory germ cell tumours (GCTs) who had previously received multi-line systemic treatments including high-dose chemotherapy.Observational study.Clinic of Medical Oncology, Gulhane School of Medicine, Ankara, Turkey, between January 2017 and August 2021.Clinical characteristics of adult patients with relapsed/refractory GCTs treated with the GemPOx protocol were recorded from the hospital's patient registry database. Patients without a medical record were not included in the study. Objective response rate (ORR), progression-free survival (PFS), overall survival (OS), one-year PFS rate, one-year OS rate, and treatment-related haematological side effects were determined after GemPOx.Fifty-three adult patients were included (47 of them were male). Seventy-eight percent had Stage 3 at initial diagnosis. Twenty-four percent of the patients received more than four lines of systemic chemotherapy. Ninety-six percent of the patients received high-dose chemotherapy prior to GemPOx. ORR, which is the sum of the complete and partial response rates, was 69.8%. PFS was determined as 8.5 ± 5.4 months. The one-year PFS rate was 30.3%. OS was 15.9 ± 10.6 months. The one-year OS rate was 72.6%. Febrile neutropenia was observed in 15.1% of the patients.In patients with relapsed/refractory GCTs receiving multi-line systemic chemotherapy, significant PFS and OS are achievable, and a manageable spectrum of haematological side effects is observed with GemPOx.Gemcitabine, Paclitaxel, Oxaliplatin, Germ cell tumour.

Alveolar cleft reconstruction is important to increase the quality of life of cleft lip and palate patients. Usually, alveolar clefts can be reconstructed using bone grafts. However, bone grafting can be insufficient, and other alternatives may be necessary in wide and recalcitrant clefts. The medial femoral condyle (MFC) flap may be the solution for alveolar clefts that are impossible to reconstruct with bone grafting. In this study, the reconstruction of alveolar clefts in the pediatric cleft lip and palate population, using the MFC flap, is described. This study examined 9 pediatric patients whose alveolar clefts were reconstructed prospectively using MFC flap in 2015 and 2019. The age, gender, follow-up times, independent parameters, and existence of concomitant vestibulonasal fistulas of the patients were recorded. Computerized tomography images of the patients were evaluated to detect defect characteristics and evaluate the volume of flap postoperatively. Flap viability was confirmed with bone scintigraphy, and donor area morbidity was evaluated with the Dynamic Gait Index (DGI) in the postoperative period. The study included 7 male and 2 female patients. The mean age of the patients was 13. In addition to an alveolar cleft, 6 patients also had vestibulonasal fistula. It was observed that the volume of the flaps had not changed one year after the operation. The DGI score of all the patients was 24. Existing techniques may be inadequate in the reconstruction of wide and recalcitrant alveolar clefts. MFC flap may be the start of a new era for the treatment of alveolar clefts.

To analyse the range of injuries associated with sternal fracture (SF) and their clinical features and outcomes.Observational study.Department of Emergency Medicine, Faculty of Medicine, Selcuk University, Konya, Turkey, from July 2010 to July 2020.Sternal fractures were considered in 330 patients with blunt trauma during the study period. They were categorised according to the Johnson and Branfoot classification and the Arbeitsgemeinschaft fur Osteosynthesefragen / Orthopaedic Trauma Association classification. Demographic data were collected, including age, gender, mechanism of injury, associated injuries, and the length of hospital stay.During the 10-year study period, a total of 4024 thoracic trauma patients were admitted to the emergency department. Of these, 330 (8.2%) had a sternal fracture. The median age of the patients was 41 (8-90) years, and 72.7% were male. Isolated sternal fractures occurred in 93 patients (28.2%). An additional thoracic injury was observed in 74 patients (22.4%) included in the study, and an accompanying extrathoracic injury was observed in 34 patients (10.3%). In 129 patients (39.1%), both thoracic and extrathoracic pathologies were detected, in addition to SF. The mortality rate among patients with isolated sternal fracture was 1.1%; the mortality rate among patients with sternal fracture accompanied by additional pathologies was 6.6%.Sternal fractures are frequently associated with other injuries. Although isolated sternal fracture has a good prognosis, careful evaluation and clinical observation are essential for additional injuries.Emergency medicine, Sternal fracture, Chest trauma.

Introduction : The recovery of recurrent motor branch of the median nerve might be delayed in high level median nerve injuries due to the long reinnervation distance. The aim of this study is to define a novel nerve transfer to restore the opposition and pinch. Methods : Two fresh frozen hand cadavers were used for the study. The motor branch of the first palmar interosseous muscle of the ulnar nerve was identified and dissected. Thenar branch of the median nerve was dissected from its insertion site. The motor branch of the first palmar interosseous muscle of the ulnar nerve was transferred to the thenar motor branch of the median nerve. Axon counts were examined histopathologically. Clinically this nerve transfer was performed for two female patients with a high-level median nerve injury. Mehta opposition scores were 21 and 20, respectively and the results were satisfactory six months after the surgery. Discussion : Although exploration and repair are recommended as the first treatment for median nerve injuries, the waiting time until the motor branch is reinnervated is critical in high level lesions. Nerve transfers become very important for fast recovery. Conclusions : This new nerve transfer proposal may be an important step in nerve transfer surgery.

WOS: 000480728400010, PubMed: 30994490, Introduction: Hand photography is effective and advantageous for assessing functional deficits and improvements related to surgery. In this study, it is aimed to investigate whether the correct active range of motion (ROM) is masked by the passive ROM in a wrist joint. Method: Eleven patients who were treated for unilateral wrist fractures were included in the study. Photography was performed in all patients by the same surgeon according to the conventional hand surgery photography approach and the active ROM photography approach. Differences between the noninjured side and injured side were assessed. Results: No differences were found between the active ROM and passive ROM during the extension and flexion movements in the noninjured side group. However, in the injured side group, the results from the photographs obtained with the conventional method were significantly better than the results from the photographs obtained when the wrist was actively moved. Conclusion: These findings suggest that photographs of wrists during passive motion may affect the results of a treatment or study by showing false positivity. We propose obtaining images of active ROM instead of passive ROM in hand photography.

KUZU, ISINSU/0000-0001-5519-1009 WOS: 000487139400010 PubMed: 31377971 … National Institute of Allergy and Infectious DiseasesUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Institute of Allergy & Infectious Diseases (NIAID) [5R37AI095983]; Rockefeller University; St. Giles Foundation; French National Institute of Health and Medical Research (INSERM), Paris Descartes University; Integrative Biology of Emerging Infectious Diseases Laboratory of Excellence [ANR-10-LABX-62-IBEID]; French National Research Agency under the "Investments for the future" programFrench National Research Agency (ANR) [ANR-10-IAHU-01]; ANR-GENMSMDFrench National Research Agency (ANR) [ANR-16-CE17-0005-01]; SRC2017; INSERMInstitut National de la Sante et de la Recherche Medicale (Inserm); [ANR-14-CE15-006-01] The Laboratory of Human Genetics of Infectious Diseases is supported by the National Institute of Allergy and Infectious Diseases grant number 5R37AI095983, the Rockefeller University, the St. Giles Foundation, the French National Institute of Health and Medical Research (INSERM), Paris Descartes University, the Integrative Biology of Emerging Infectious Diseases Laboratory of Excellence (ANR-10-LABX-62-IBEID) and the French National Research Agency under the "Investments for the future" program (grant number ANR-10-IAHU-01), ANR-GENMSMD (grant number ANR-16-CE17-0005-01 for JB) and SRC2017 (for JB). COQ is financially supported by ANR-14-CE15-006-01. JR is financially supported by the INSERM PhD program for medical and pharmaceutical doctors (" poste d'accueil INSERM").

Objective: Hemodialysis patients may be at risk for malnutrition due to catabolic effects caused by dialysis, loss of amino acids, inadequate nutrient intake, acidosis, and inflammation. Malnutrition may have negative effects on quality of life, mortality, and disease prognosis. This study was conducted to determine the relationship between anthropometric parameters, depression, and quality of life with Malnutrition Inflammation Score (MIS) on 55 patients aged between 18 and 65 years (36 males and 19 females) who have dialysis treatment for 3 days per week for at least 3 months due to end-stage renal disease. Methods: Patients were evaluated with MIS, Subjective Global Assessment (SGA), Beck Depression Inventory (BDI), and Satisfaction with Life Scale (SWLS). In addition, anthropometric (body weight, height, mid-upper arm circumference [MUAC]) and body composition measurements of patients were taken, body mass index (BMI) values were calculated, and biochemical parameters (albumin, C-reactive protein [CRP], and total iron binding capacity [TIBC]) were analyzed. Results: At the end of the study, 14.5% of the patients according to SGA, were classified as malnourished. There was a statistically significant positive correlation of BDI, duration of dialysis, and CRP with MIS. However, MIS had a statistically significant negative correlation with SWLS, body weight, and MUAC (p < 0.05). Conclusion: MIS is an effective screening tool for assessing malnutrition and quality of life in hemodialysis patients. However, there is a need for studies to identify cutoff points of MIS.

IMPORTANCE Coronavirus disease 2019 (COVID-19) is an emerging disease that was declared as a pandemic by WHO. Although there are many retrospective studies to present clinical aspects of the COVID-19, still the involvement of the musculoskeletal system has not been deeply investigated.OBJECTIVE To classify the symptoms of musculoskeletal system in COVID-19 patients, to evaluate myalgia, arthralgia and physical/mental fatigue, to assess handgrip muscle strength, and to examine the relationship of these parameters with the severity and laboratory values of the disease. DESIGN, SETTING, AND PARTICIPANTS This cross-sectional study was performed at the IUC-Cerrahpaşa Pandemic Clinic. Hospitalized 150 adults with laboratory and radiological confirmation of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) according to WHO interim guidance were included in the study. Data were recorded from May 15,2020, to June 30, 2020.MAIN OUTCOMES AND MEASURES Demographic data, comorbidities, musculoskeletal symptoms, laboratory findings and CT scans were recorded. To determine the disease severity 2007 idsa/ats guidelines for community acquired pneumonia was used. Myalgia severity was calculated by numerical rating scale (NRS). Visual analog scale and Chalder Fatigue Scale (CFS) were used for fatigue severity determination. Handgrip strength (HGS) was measured by Jamar hand dynamometer.RESULTS 103 patients (68.7%) were nonsevere and 47 patients (31.3%) were severe. The most common musculoskeletal symptom was fatigue (133 [85.3%]), followed by myalgia (102 [68.0%]), arthralgia (65 [43.3%]) and back pain (33 [22.0%]). Arthralgia, which was mostly notable at wrist (25 [16.7%]), ankle (24 [16.0%]) and knee (23 [15.3%]) joints, showed significant correlation with disease severity. There was severe myalgia according to NRS regardless of disease severity. The physical fatigue severity score was significantly higher in severe cases, whereas no relationship was found with mental fatigue score. Female patients with severe infection had lower grip strength with a mean value of 18.26 kg (P= .010) in dominant hand, whereas no relationship was found between disease severity and grip strength in male patients, but the mean values in both genders and in decades appears below the specified normative values. Lactate dehydrogenase (LDH) level and lymphocyte count were significantly correlated with lower grip strength. LDH, C-reactive protein (CRP) and D-dimer levels were above the normal range in patients with myalgia, arthralgia and fatigue. CONCLUSIONS AND RELEVANCE Musculoskeletal symptoms are quite common aside from other multi-systemic symptoms in patients with COVID-19. Arthralgia, which is related to the disease severity, should be considered apart from myalgia. COVID-19 patients have severe ischemic myalgia regardless of the disease activity. Although there is a muscle weakness in all patients, the loss of muscle function is related with the disease activity especially in women. Muscular involvement in coronavirus disease is a triangle of myalgia, physical fatigue, and functional impairment.

WOS: 000434152500003 PubMed ID: 28972286 IntroductionThe deep inferior epigastric perforator (DIEP) flap is one of the most commonly utilized flaps of reconstructive surgery. Although the horizontal flap design is the most commonly used, this flap can be vertically designed to avoid drawbacks such as excessive tissue dissection, relatively reduced flap perfusion, and scarification of the contralateral flap opportunity. The aim of this report is to present our case series for foot and ankle reconstruction with vertical designed DIEP flap. Patients and methodsThe free vertically designed DIEP flaps (VDIEP) were used in eight patients (7 male, 1 female) whose age is in a range of 20-66 years for soft tissue reconstructions in the ankle and foot region over a five-year period. The range of defects' size was from 8 x 5 cm to 15 x 7 cm and the causes were electrical burn, trauma and diabetic foot infections. ResultsFlap dimensions varied from 10 x 6 cm to 17 x 9 cm. All the flaps had two or more perforators, and all flaps survived completely. There were no early or late complications. We followed up the patients for 10 months in average. We observed no functional problems, especially in main motions of foot and ankle like eversion, inversion, flexion or extension except one patient. Donor site scars were acceptable in all patients. ConclusionsThe VDIEP flap may be an option for selected lower extremity soft tissue reconstructions, and it may be an alternative to classically designed abdominal flaps.

kiykim, ayca/0000-0001-5821-3963; Baris, Safa/0000-0002-4730-9422; AGREBI, Nourhen/0000-0001-5703-9668; Ayaz, Nuray Aktay/0000-0003-3594-7387; Cekic, Sukru/0000-0002-9574-1842; Karaca, Neslihan/0000-0002-2202-7082; Kara, Emine Manolya/0000-0001-6234-7024; /0000-0002-9065-1901; Lo, Bernice/0000-0002-1087-6845, WOS: 000495746100038, PubMed: 31238161, BACKGROUND: LPS-responsive beige-like anchor (LRBA) deficiency presents with susceptibility to infections, autoimmunity, and lymphoproliferation. the long-term efficacy of cytotoxic T-lymphocyte-associated antigen 4-immunoglobulin (abatacept) as targeted therapy for its immune dysregulatory features remains to be established. OBJECTIVE: To determine the clinical and immunologic features of LRBA deficiency and long-term efficacy of abatacept treatment in controlling the different disease manifestations. METHODS: Twenty-two LRBA-deficient patients were recruited from different immunology centers and followed prospectively. Eighteen patients on abatacept were evaluated every 3 months for long-term clinical and immunologic responses. LRBA expression, lymphocyte subpopulations, and circulating T follicular helper cells were determined by flow cytometry. RESULTS: the mean age of the patients was 13.4 +/- 7.9 years, and the follow-up period was 3.4 +/- 2.3 years. Recurrent infections (n = 19 [86.4%]), immune dysregulation (n = 18 [81.8%]), and lymphoproliferation (n = 16 [72.7%]) were common clinical features. the long-term benefits of abatacept in 16 patients were demonstrated by complete control of lymphoproliferation and chronic diarrhea followed by immune dysregulation, most notably autoimmune cytopenias. Weekly or every other week administration of abatacept gave better disease control compared with every 4 weeks. There were no serious side effects related to the abatacept therapy. Circulating T follicular helper cell frequencies were found to be a reliable biomarker of disease activity, which decreased on abatacept therapy in most subjects. However, high circulating T follicular helper cell frequencies persisted in 2 patients who had a more severe disease phenotype that was relatively resistant to abatacept therapy. CONCLUSIONS: Long-term abatacept therapy is effective in most patients with LRBA deficiency. (C) 2019 American Academy of Allergy, Asthma & Immunology, Scientific and Technological Research Council of TurkeyTurkiye Bilimsel ve Teknolojik Arastirma Kurumu (TUBITAK) [217S847]; National Institutes of HealthUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USA [5R01AI085090]; NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASESUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Institute of Allergy & Infectious Diseases (NIAID) [R01AI085090, R01AI085090, R01AI065617, R01AI065617, R01AI085090, R01AI085090, R01AI065617, R01AI065617] Funding Source: NIH RePORTER, This work was supported by grants from the Scientific and Technological Research Council of Turkey (grant no. 217S847 to S.B.) and the National Institutes of Health (grant no. 5R01AI085090 to T.A.C.).

Severe combined immunodeficiency is an inborn error of immunity characterized by impairments in the numbers and functions of T and B lymphocytes due to various genetic causes, and if it remains untreated, patients succumb to infections during the first 2 years of life.This study reported retrospective data from 72 infants diagnosed with SCID including their major clinical features, HSCT characteristics, and outcomes over a 20-year period (1997-2017).Sixty-one of 72 SCID patients in the study underwent HSCT from 1997 to 2017. Median ages at the time of diagnosis and transplantation were 3.5 months and 5 months, respectively. Consanguinity was present in 68% of the patients, and T - B - NK + phenotype was predominantly identified. The overall survival was 80.3% over a 20-year period. However, the patients transplanted during an active infection had a lower survival rate of 73.9% compared to 100% for patients transplanted infection-free or with a previous infection that had resolved. The survival rate was significantly higher among recipients of HLA-identical transplants (92.9%), compared to recipients of mismatched related transplants (70%). The overall survival increased from 50 (1997-2006) to 85% (2007-2017) during the last 10 years.This is one of the largest single-center studies in Turkey with extensive experience about SCID patients. Early diagnosis of SCID patients before the onset of an infection and early transplantation are shown to be extremely important factors affecting the outcome and increasing the survival regardless of the donor type based on the results of this study.

WOS: 000428237600009, PubMed: 29350367, Our objective was to compare the outcomes of dorsal hand defect reconstruction using a posterior interosseous artery flap (PIAF) and a reverse adipofascial radial forearm flap : From 2008 to 2013, 23 patients who underwent hand soft tissue defect reconstruction with PIAF (11 patients) and patients) were included in this retrospective study. Reconstruction methods were compared in terms of functionality with disability of the arm, shoulder, and hand (DASH) score and range of motion (ROM) and aesthetically with scar assessment. Operation times, length of hospital stay, and donor site problems were compared. RESULTS: We found no statistically significant differences between PIAF and RARFF in terms of ROM, DASH score, and length of hospital stay. Statistically significant differences were found in operation time, scar assessment, and donor site problems between PIAF and RARFF patients. : RARFF showed better results than PIAF in dorsal hand defects, but in RARFF, the major arteries of the hand are sacrificed., Bu çalışmadaki amacımız el dorsumundaki defektlerin posteriyor interosseöz arter flebi (PİA) ve ters akımlı adipofasyal radial önkol (RRÖF) ile onarım sonuçlarını kıyaslamaktır.Geriye dönük olarak dizayn edilen bu çalışmaya 2008–2013 yılları arasında, PİA ile (11 hasta) ve RRÖF ile (12 hasta) el dorsumundaki yumuşak doku defektleri onarılan 23 hasta dahil edildi. Onarım yöntemleri fonksiyonel olarak kol, omuz ve el sorunları anketi (DASH) skoru, eklem hareket açıklığı (ROM) ile; estetik olarak skarın görünümü ile değerlendirildi. Ameliyat süreleri, hastanede kalış süreleri ve donör alan problemleri kıyaslandı. Posteriyor interosseöz arter flebi ve RRÖF arasında ROM ve DASH skorları ve hastanede kalış süresi açısından istatistiksel açıdan fark saptanmadı. Ameliyat süreleri, skar değerlendirmesi ve donör alan problemleri açısından ise istatistiksel açıdan fark saptandı.Dorsal el defektlerinde RRÖF sonuçları PİA’dan daha iyidir, ne varki RRÖF elin ana bir arterini sakrifiye etmektedir.

Introduction: despite the positive effects of frequent meals on obesity treatment, there have been no definite conclusions on the matter. Objective: the aim of this study is to determine the effects of different meal frequencies on weight loss, body composition and some biochemical parameters of overweight or obese females. Methods: sixty-five adult overweight or obese females were recruited from the Endocrine Department of Ankara Gülhane Education and Research Hospital. Individualistic weight-loss diet programs were implemented (three meals/day for one group and six meals/day for the other group) with a three-month follow-up. Anthropometric measurements and 24-hour dietary records were taken for each week during the study period. Some biochemical parameters (lipid profile, fasting blood glucose, fasting insulin) were analyzed at the beginning and at the end of the study. Results: forty-three participants finished the study period. Body weight, body mass index, fat mass (kg), fat mass percentage (%), and waist circumference (cm) decreased significantly in both groups (p0.05), while fat free mass (kg) and body water (l) did not change significantly (p0.05). Only serum fasting insulin levels decreased significantly in the six meals/day group (p0.05). Whatever the differences between the initial and final values of body weight, body composition, and biochemical parameters, they were similar between the groups (p0.05). Only the decrease in fasting insulin levels in the six-meal group was found higher than that of the three-meal group. Conclusion: in conclusion, body weight, body composition, and lipid profiling are not affected by the number of meals when weight-loss diets are prepared with adequate energy restrictions and sufficient and balanced nutrition.Introducción: a pesar de los efectos positivos de realizar comidas frecuentes en el tratamiento de la obesidad, no existen conclusiones definitivas al respecto. Objetivo: el objetivo de este estudio es determinar los efectos de diferentes frecuencias de comidas en la pérdida de peso, la composición corporal y algunos parámetros bioquímicos en mujeres con sobrepeso u obesas. Métodos: sesenta y cinco adultas con sobrepeso u obesidad fueron reclutadas procedentes del Departamento de Endocrinología del Hospital de Educación e Investigación de Ankara Gülhane. Se implementaron programas individuales de dieta para perder peso: tres comidas/día para un grupo y seis comidas/día para el otro grupo, con un seguimiento de tres meses. Se tomaron medidas antropométricas y registros dietéticos de 24 horas cada semana durante el periodo de estudio y se analizaron algunos parámetros bioquímicos (perfil lipídico, glucemia en ayunas, insulina en ayunas) al comienzo y al final del estudio. Resultados: cuarenta y tres participantes terminaron el periodo de estudio. El peso corporal, el índice de masa corporal, la masa grasa (kg), el porcentaje de masa grasa (%) y la circunferencia de la cintura (cm) disminuyeron significativamente en ambos grupos (p0,05), mientras que la masa libre de grasa (kg) y el agua corporal (l) no cambiaron significativamente (p0,05). Solo los niveles séricos de insulina en ayunas disminuyeron significativamente en el grupo de seis comidas/día (p0,05). Cualesquiera que sean las diferencias entre los valores inicial y final del peso corporal, la composición corporal y los parámetros bioquímicos fueron similares entre los grupos (p0,05). Solo la disminución de los niveles de insulina en ayunas en el grupo de seis comidas fue más alta que en el grupo de tres comidas. Conclusión: en conclusión, el peso corporal, la composición corporal y el perfil lipídico no se ven afectados por la cantidad de comidas cuando las dietas para perder peso se preparan con las restricciones de energía adecuadas y una nutrición suficiente y equilibrada.

Elhan, Atilla Halil/0000-0003-3324-248X; Ikinciogullari, Aydan/0000-0003-1145-0843; Dogu, Figen/0000-0002-7869-4941; ates, can/0000-0003-2286-4398 WOS: 000468974100018 PubMed: 30924026 Severe combined immunodeficiency (SCID) is the most serious PID, characterized by T cell lymphopenia and lack of antigen-specific T cell and B cell immune responses, inevitably leading to death within the first year of life if hematopoietic stem cell transplantation (HSCT) is not performed. Purpose and Methods Since SCID is a common type of PID with an estimated incidence of 1/10.000 in Turkey, a retrospective analysis of HSCT characteristics, survival, immune recovery, and the major clinical features of SCID prior to HSCT is the aim of this multi-transplant center-based analysis. Results A total of 234 SCID patients transplanted between the years 1994 and 2014 were included in the study. Median age at diagnosis was 5 months, at transplantation, 7 months, B- phenotype and RAGs were the most common defects among others. Immune phenotype did not seem to have an effect on survival rate (p > 0.05), Immunoglobulin (Ig) requirement following HSCT did not differ between B+ and B- phenotypes (p > 0.05). Overall survival rate was 65.7% over a period of 20 years. It increased from 54% (1994-2004) to 69% (p = 0.052) during the last 10 years (2005-2014). Ten-year survival after HSCT has improved over time although the difference was not significant. Infection at the time of transplantation (p = 0.006), mismatched related donor (MMRD) (haploidentical parents), and matched unrelated donor (MUD) donor transplants p < 0.001 were the most important factors, significantly affecting the outcome. Conclusions This is the first multicenter study with the largest data obtained from transplanted SCID patients in Turkey. Early diagnosis with newborn screening (NBS) together with emerging referrals, treatment by transplantation centers, and specialized teams are mandatory in countries with high parental consanguinity such as Turkey.

Objective: Cancers have been reported to worsen the clinical course of coronavirus disease 2019 (COVID-19) infection. We aimed to demonstrate the real-life data on health outcomes in COVID-19-infected cancer patients. Materials and Methods: We analyzed the data of 43 COVID-19-infected cancer patients in our COVID-19 clinics between March 25, 2020, and May 9, 2020, retrospectively. Results: We determined that 1051 patients were followed up with COVID-19 infection and 43 (4%) of them were cancer patients. The mean age of the patients was 64.3 ± 12.3 years. Lung cancer is the most common cancer type among the patients (23.2%). Dyspnea (51.2%) was the most common symptom in the first admission. Typical ground-glass consolidation or patchy appearance with peribronchial thickening resembling bronchopneumonia on high-resolution computed tomography (HRCT) was present in 29 (67.4%) patients. COVID-19 was diagnosed in 14 (32.5%) patients based on reverse transcriptase-polymerase chain reaction analysis of nose-throat swab samples without any sign of lung involvement on HRCT. Total mortality of the COVID-19 infection was 46.5% (n = 20). Presence of heart disease (hazard ratio [HR]: 3.5; 95% confidence interval [CI]: 1.29–9.4), previous surgeries to the respiratory system (HR: 6.95; 95% CI: 1.29–27.7), and presence of dyspnea at admission (HR: 4; 95% CI: 1.31–12.3) were statistically significantly associated with death (P = 0.01, 0.02, and 0.01, respectively). Conclusion: Our practices supported that cancer patients were more affected by COVID-19 disease than the normal population. However, our findings can not be generalized due to being retrospective and single centered study, Also, we did not compare the findings with noncancer patients with COVID19 disease.

It is unknown whether sex influences the diagnostic evaluation of autism spectrum disorder, or whether male and female adults within the spectrum have different symptom profiles. This study reports sex differences in clinical outcomes for 1244 adults (935 males and 309 females) referred for autism spectrum disorder assessment. Significantly, more males (72%) than females (66%) were diagnosed with an autism spectrum disorder of any subtype (x2 = 4.09; p = 0.04). In high-functioning autism spectrum disorder adults (IQ > 70; N = 827), there were no significant sex differences in severity of socio-communicative domain symptoms. Males had significantly more repetitive behaviours/restricted interests than females (p = 0.001, d = 0.3). A multivariate analysis of variance indicated a significant interaction between autism spectrum disorder subtype (full-autism spectrum disorder/partial-autism spectrum disorder) and sex: in full-autism spectrum disorder, males had more severe socio-communicative symptoms than females; for partial-autism spectrum disorder, the reverse was true. There were no sex differences in prevalence of co-morbid psychopathologies. Sex influenced diagnostic evaluation in a clinical sample of adults with suspected autism spectrum disorder. The sexes may present with different manifestations of the autism spectrum disorder phenotype and differences vary by diagnostic subtype. Understanding and awareness of adult female repetitive behaviours/restricted interests warrant attention and sex-specific diagnostic assessment tools may need to be considered.

Gokcinar, Nesrin Buyuktortop/0000-0001-7795-5188; YILDIRAN, Fatma Azize BUDAK/0000-0001-7031-6834 WOS: 000492182300024 PubMed: 30142005 Purpose: To investigate the role of innate immunity in ocular rosacea. Methods: Thirty-two patients with ocular rosacea patients (group-1) and 28 healthy volunteers (group-2) who served as controls were enrolled in the study. Tear function parameters were assessed, conjunctival impression cytology was performed and tear samples were collected. Human-neutrophil-peptides (HNP) 1?3 and human-beta-defensin-2 (hBD-2) levels were measured in tears by using ELISA tests. Cathelicidin leucin-leucin-37 (LL-37), hBD-2, human-beta-defensin-9 (hBD-9) gene expression levels were measured in the conjunctival impression cytology samples using real-time polymerase chain reaction. Results: Tear HNP1-3 (p?=?0.024), hBD-2 (p?0.001), conjunctival LL-37 gene expression rate (p?=?0.014) and ocular surface disease index scores (p?=?0.001) were higher and the tear break-up time was lower (p?=?0.003) in group-1. No other differences were found between the groups. Conclusion: The results of this study suggest the role of abnormal innate immunity in the pathophysiology of ocular rosacea by revealing elevated antimicrobial peptide levels. Kirikkale University of Scientific and Technological Research Center (KUBTUAM) Laboratory analyses were performed in Kirikkale University of Scientific and Technological Research Center (KUBTUAM) with the above mentioned financial support. The authors want to thank to biology experts Esra G?nayd?n and Asl? Agar for ELISA and RT-PCR performed in KUBTUAM.

Cross-sectional study. To establish whether inter-professional rehabilitation goals from people with non-traumatic spinal cord injury (SCI) can be classified against the International Classification of Functioning, Disability and Health (ICF) SCI Comprehensive and Brief Core Sets early postacute situation. Neurological rehabilitation unit. Rehabilitation goals of 119 patients with mainly incomplete and non-traumatic SCIs were classified against the ICF SCI Core Sets following established linking rules. A total of 119 patients generated 1509 goals with a mean (and s.d.) of 10.5 (9.1) goals per patient during the course of their inpatient rehabilitation stay. Classifying the 1509 rehabilitation goals against the Comprehensive ICF Core Set generated 2909 ICF codes. Only 69 goals (4.6%) were classified as ‘not definable (ND)’. Classifying the 1509 goals against the Brief ICF Core Set generated 2076 ICF codes. However, 751(49.8%) of these goals were classified as ‘ND’. In the majority of goals (95.7%), the ICF code description was not comprehensive enough to fully express the goals set in rehabilitation. In particular, the notion of quality of movement or specificity and measurability aspects of a goal (usually described with the criteria and acronyms SMART) could not be expressed through the ICF codes. Inter-professional rehabilitation goals can be broadly described by the ICF Comprehensive Core Set for SCI but not the Brief Core Set.

Hematopoietic stem cell transplantation is a promising curative therapy for many combined primary immunodeficiencies and phagocytic disorders. We retrospectively reviewed pediatric cases of patients diagnosed with primary immunodeficiencies and scheduled for hematopoietic stem cell transplantation. We identified 22 patients (median age, 6 months; age range, 1 month to 10 years) with various diagnoses who received hematopoietic stem cell transplantation. The patient diagnoses included severe combined immunodeficiency (n=11), Chediak-Higashi syndrome (n=2), leukocyte adhesion deficiency (n=2), MHC class 2 deficiency (n=2), chronic granulomatous syndrome (n=2), hemophagocytic lymphohistiocytosis (n=1), Wiskott-Aldrich syndrome (n=1), and Omenn syndrome (n=1). Of the 22 patients, 7 received human leukocyte antigen-matched related hematopoietic stem cell transplantation, 12 received haploidentical hematopoietic stem cell transplantation, and 2 received matched unrelated hematopoietic stem cell transplantation. The results showed that 5 patients had graft failure. Fourteen patients survived, yielding an overall survival rate of 67%. Screening newborn infants for primary immunodeficiency diseases may result in timely administration of hematopoietic stem cell transplantation.Birçok kombine primer immün yetmezlik ve fagositer bozukluk için hematopoetik kök hücre nakli küratif bir tedavidir. Bu çalışmada, primer immün yetmezlik tanısı alan ve hematopoetik kök hücre nakli yapılan hastaları retrospektif olarak inceledik. Yirmi iki hasta belirlendi. Hastaların hematopoetik kök hücre nakli sırasındaki ortanca yaşları 6 ay (minimum-maksimum: 1 ay-10 yaş) idi. Hastaların tanıları ağır kombine immün yetmezlik (n=11), Cheidak Higashi sendromu (n=2), lökosit adezyon defekti (n=2), MHC sınıf-2 eksikliği (n=2), kronik granülomatoz hastalık (n=2), hemofagositik lenfohistiyositoz (n=1), Wiskott-Aldrich sendromu (n=1) ve Omenn’s sendromu (n=1) idi. Yedi hastaya tam insan lökosit antijen uyumlu, 12 hastaya yarı uyumlu ve 2 hastaya insan lökosit antijen uyumsuz vericiden hematopoetik kök hücre nakli yapıldı. Beş hasta da graft başarısız oldu. On dört hasta hayatta kaldı ve ortalama sağkalım %67 idi. Bu hastalık için yenidoğan taramaları yapılması ile hematopoetik kök hücre transplantasyonları zamanında yapılabilir. Anahtar Sözcükler: Hematopoetik kök hücre, Transplantasyon, Çocuk, İmmün yetmezlik.

PubMed: 28452068 Background: Serum vitamin D levels have not been studied in children with seasonal allergic rhinitis (SAR). The aim of this study was to evaluate the vitamin D levels of children with SAR and to compare them to levels in healthy children during pollen season. Methods: This study was conducted in 100 children with SAR and 100 healthy controls. Clinical and laboratory evaluations and vitamin D analyses of all the participants were performed between the months of April and July. Pollen sensitization was detected in the patient group using a skin prick test. 25(OH)D3 levels were compared between the patient and control groups. Associations among the patient 25(OH)D3 levels and their demographic, clinical, and laboratory characteristics were analyzed. Results: Overall, 72% of the patients were male, the median age was 12.35 years (range: 6-17.8 years), and the median body mass index value was 19.15 (range: 13.6-27.8). There were no differences between the patients and healthy controls in terms of gender, age, or body mass index. The mean levels of 25(OH)D3 (20.78±6) in patients were higher than those of the controls (17.92±4). In the patient group, no associations were found among 25(OH)D3 levels, demographic characteristics, atopy test results, atopy history, severity of rhinitis, and the total four symptoms score (all P>.05). Conclusions: During pollen season, children with SAR may have higher vitamin D levels than healthy controls. The presence of asthma and/or atopic dermatitis in addition to SAR did not change this result. © 2017 EAACI and John Wiley and Sons A/S. Published by John Wiley and Sons Ltd. Funding information This study was funded by the Ondokuz May?s University Individual Research Project PYO.TIP.1901.15.023

Objective: The aim of this study was to investigate Legg-Calvé-Perthes disease (PD) pathogenesis by comparing absolute circulating endothelial progenitor cell (EPC) counts, serum levels of vascular endothelial growth factor-A (VEGF-A) and immunoglobulins between PD patients and controls.Methods: The study included 28 PD cases (mean age: 8±3.8) and 25 healthy age-matched control subjects. EPC, serum VEGF-A and immunoglobulin levels were measured in peripheral blood samples. Comparisons and correlation analysis were performed.Results: In the PD group, 17 subjects were in the fragmentation stage and 11 in the healing stage. Four patients had bilateral disease and 14 had hypogammaglobulinemia. Median EPC count of the PD group was 80 and was significantly higher than those of the control group (p=0.011). No significant difference was determined in serum VEGF-A levels (p=0.354). EPC count were inversely correlated with serum IgG levels of the PD group (r=0.403, p=0.03). Absolute EPC count was also significantly higher in the fragmentation stage than in the healing stage and were also greater in bilaterally affected than in unilaterally affected patients. Circulating EPC count was correlated to the serum VEGF-A levels in patients with fragmentation stage of PD (r=0.605, p=0.01) and in those with hypogammaglobulinemia (r=0.599, p=0.001).Conclusion: High EPC count at the fragmentation stage of PD and relatively higher counts in bilateral disease suggest that EPC may be a valuable marker in the diagnosis and follow-up of PD. Additional studies are needed to explain the strong correlation between EPC and serum VEGF-A level in the fragmentation stage and in the presence of hypogammaglobulinemia., Amaç: Bu çalışmada Legg-Calvé-Perthes hastalığının (PH) etiyopatogenezinin aydınlatılması amaçlanmıştır. Bu amaca yönelik olarak Perthes hastaları ile kontrol grubu olgularında dolaşımdaki endotelial progenitör hücre (EPH) sayısı, serum vasküler endotelial büyüme faktörü-A (VEBF-A) ve immünoglobulin düzeyleri karşılaştırıldı.Çalışma planı: Çalışmaya 28 PH olgusu (ortalama yaş: 8±3.8) ve yaşları eşleşen 25 sağlıklı kontrol olgusu dahil edildi. Periferik venöz kan örneklerinde EPH, serum VEBF-A ve immünoglobulin düzeyleri ölçüldü. Karşılaştırma ve korelasyon analizleri uygulandı.Bulgular: PH grubundaki olguların 17’si fragmantasyon, 11’i ise iyileşme döneminde idi. Hastalık 4 olguda bilateral iken, 14 hastada hipogamaglobulinemi mevcuttu. PH grubundaki medyan EPH sayısı 80 olup kontrol grubuna göre anlamlı derecede yüksekti (p=0.011). Serum VEBF-A düzeylerinde anlamlı farklılık saptanmadı (p=0.354). PH grubunda EPH sayısı serum IgG düzeyi ile tersine korele idi (r=-0.403, p=0.03). Mutlak EPH sayısı fragmantasyon dönemindeki hastalarda, iyileşme dönemindekilerden; bilateral hastalığı olanlarda ise unilateral olanlardan anlamlı olarak yüksekti. Dolaşımdaki EPH sayısı Perthes hastalığının fragmantasyon safhasında (r=0.605, p=0.01) ve hipogamaglobulinemi varlığında (r=0.599, p=0.001) serum VEBF-A düzeyi ile korelasyon göstermekteydi.Çıkarımlar: Fragmantasyon evresindeki hastalarda görülen yüksek EPH sayısı ve bilateral tutulumu olan hastalarda nispeten daha yüksek bulunan EPH sayısı, PH’nin takibinde değerli bir gösterge olabilir. Hastalığın fragmantasyon evresinde ve hipogamaglobulinemi varlığında EPH sayısı ve serum VEBF-A düzeyi arasındaki güçlü korelasyonu açıklamak için daha fazla çalışma yapılmasına ihtiyaç vardır..

WOS: 000411656400005 PubMed: 28236542 Background: The purpose of this study is to examine the changes in B lymphocyte subsets in patients receiving allergen immunotherapy. Methods: B lymphocyte subsets of patients before immunotherapy and one year after immunotherapy began were examined using the flow cytometric method. Age-matched healthy children served as the control group. Results: Twenty-two patients with asthma and/or allergic rhinitis and 14 healthy, age-matched controls were included in the study. The median age of the patients was 13 years old (range: 6-20 years), and eleven (50.0%) were male. The median age of the healthy controls was also 13 years old (range: 7-17), and seven (50.0%) were mate. In the age group from 11 to 15 years; the patients' relative and absolute counts of active and mature sensitive B cells were higher than those of the healthy children (p = 0.027-0.012 and p = 0.032-0.010, respectively) before immunotherapy. The relative and absolute counts of active B cells before immunotherapy were also significantly higher than those of after immunotherapy (p = 0.001-0.001, p = 0.025-0.037, and p = 0.029-0.035, respectively). Before immunotherapy, the relative and absolute counts of mature sensitive B cells were significantly higher than those obtained after immunotherapy (p = 0.024-0.006) in the 11-15-year-old age group. Conclusions: Allergen immunotherapy directly influences B cell differentiation and causes a decrease in the count of active B cells. This finding is relevant because the B cell count can be used as a guide in the assessment of an individual patient's treatment response and also when determining whether to continue the immunotherapy. (C) 2017 SEICAP. Published by Elsevier Espana, S.L.U. All rights reserved.

abur, ummet/0000-0002-4811-9321 WOS: 000388199100030 PubMed: 27604394 ICF syndrome is a primary immunodeficiency disease characterized by hypo-or agammaglobulinemia, centromeric instability mainly on chromosomes 1, 9, and 16 and facial anomalies. ICF syndrome presents with frequent respiratory tract infections in infancy. A 20-month-old female patient was referred to our clinic due to frequent lower respiratory tract infections. ICF syndrome was considered because of comorbidity of hypogammaglobulinemia, facial anomalies, and neuromotor growth retardation. Metaphase chromosome analysis revealed centromeric instability on chromosomes 1, 9, and 16 and through Sanger a previously unreported homozygous missense mutation (c.1805T>C; [p.V602A]) was identified in the DNMT3B, confirming ICF1. The patient was found to have a breakdown in renal function 1 year later; the urinary system was examined and bilateral vesicoureteral reflux was found, warranting the need for dialysis in time. This report expands the mutation spectrum of ICF1 and is the first to describe bilateral vesicoureteral reflux accompanying ICF syndrome. (C) 2016 Wiley Periodicals, Inc.

abur, ummet/0000-0002-4811-9321 WOS: 000368795400012 PubMed: 26360812 BackgroundThe cause and pathophysiology of PFAPA syndrome is unknown. The aim of this study was to determine all MEFV gene variants relevant to familial Mediterranean fever in children with PFAPA syndrome. MethodsAll MEFV gene variants were analyzed in patients with PFAPA syndrome. All patients were evaluated using the Gaslini scoring system. Serum immunoglobulin levels were also determined upon admission. ResultsWe evaluated 64 patients with PFAPA syndrome. The median age at diagnosis was 37.5 (min-max: 6-96) months, and the percentage of male patients was 55.0%. The Gaslini diagnostic score for periodic fever was high in 81.0% of the patients. An MEFV gene mutation was found in 42 (66.0%) children. Mostly, heterozygous or compound heterozygous variants of the MEFV gene were found. Two patients were homozygous for R202Q. MEFV gene mutations were not detected in 22 (34.0%) patients. No significant differences in clinical or laboratory findings were observed between the two groups (p>0.05), and there were no significant differences in period and duration of the fever episodes (p>0.05). The fever of all 47 patients (100.0%) who received prednisolone during the episodes decreased within hours and did not recur. Eighteen of the patients using prednisolone underwent prophylaxis with colchicine, and the fever episodes of 9/18 (50.0%) patients using colchicine decreased within months. ConclusionsMost patients presenting with PFAPA syndrome have heterozygous MEFV gene mutations. Whether carrying a heterozygous MEFV gene is the primary cause of this syndrome requires further investigation.

For syndactyly repair, several delicate, well-planned flap combination techniques have been reported. This study presents technique details with functional and aesthetic results of a dorsal rectangular and volar V-Y advancement flap combination for web reconstruction and S incisions for finger separation in patients with syndactyly.Ten patients with 16 syndactyly webs were treated. Patients were examined in terms of function and aesthetic. Evaluation criteria included the Vancouver Scar Scale, range of motion, degree of web creeping, parent's satisfaction rates, and finger abduction. During the initial period, vascular compromise of fingers, haematoma, infection, seroma, flap necrosis, or graft failures were not noted in any patients. No patients required revision surgery. During the later period, parent satisfaction scores were excellent or good, finger function was complete, and the Vancouver Scar Scale showed that two webs had hyperpigmented areas and two had supple pliability.This simple syndactyly release technique can provide a low rate of web creep, good scar quality, and optimal functional results.

Emericella nidulans is a species that has only rarely been implicated in human disease after cataract surgery. Here, we report the first postoperative case in the literature, as far as we know. The patient was a 50-year-old patient presented with mild anterior uveitis one week after cataract surgery, and hypopion developed over the next two days. First microbiological evaluation and the results of direct microscopy and cultures of the anterior chamber and vitreous samples were found to be negative. Despite vigorous topical and intravitreal (vancomycin and amikacin) therapy, the endophthalmitis did not improve. Anterior chamber paracentesis, vitreous tap and finally complete vitrectomy with removal of the capsular bag including the intraocular lens (IOL) were performed. The anterior chamber, vitreous fluid samples and IOL were submitted to the microbiology laboratory: the culture yielded E. nidulans growth. Ocular inflammation resolved and vision improved on intravenous, subconjunctival and long-term oral voriconazole treatment. E. nidulans can be an important cause of ocular fungal infections including endophthalmitis, and voriconazole seems to be effective for the treatment of E. nidulans endophthalmitis.

This study was conducted to determine the prevalence of metabolic syndrome (MS) in Turkish elderly. All data were collected in a cross-sectional based survey on 266 elderly aged above 65 years living in capital city of Turkey, Ankara. MS was defined according to National Cholesterol Education Program: Adult Treatment Panel III (NCEP ATP III) criteria. In the total sample of participants, the 61.7% (n = 164) of the group has been diagnosed as MS. High blood pressure (BP) and waist circumference (WC) and low high density lipoprotein cholesterol (HDL-C) were the criteria of MS with highest prevalence in both gender. In addition female participants have higher systolic blood pressure (93.4%) and WC (79.1%) and lower HDL-C (69.2%) than the men (74.4%, 31.1% and 52.2% respectively). Weight correlated significantly with triglyceride (TG) and MS (p < 0.001). WC was the anthropometric variable which had the highest correlation with the MS (r = 0.338, p < 0.001). Our study indicates that MS is highly prevalent in the elderly people particularly among women. Our findings may be helpful in formulating public health policies and prevention strategies focus on elderly population. (C) 2010 Elsevier Ireland Ltd. All rights reserved.

Purpose Endoscopic treatment of maxillofacial fractures is a different way of performing open reduction and internal fixation. This report presents a case series of mandibular subcondylar fractures performed with combined endoscopic transoral and transbuccal approaches and the results. Materials and Methods Sixteen patients with mandibular condylar fractures were preoperatively assessed for risk and underwent open reduction and internal fixation with the endoscope-assisted transoral approach. Duration of hospital stay was recorded and patients were followed for an average of 17 months for possible complications. Results No major complications were encountered in any patient. Minimal angulation was observed in 3 patients. One patient had late complaints of temporomandibular joint pain. Conclusion Endoscopic-assisted mandibular condylar fracture repair includes special surgical equipment and manipulation not used in classic methods. With this approach, subcondylar fractures can be more readily manipulated through a transbuccal puncture with appropriate fixation achieved.

WOS: 000380384200009 PubMed: 26976550 Background: The objective of this study was to examine the B lymphocyte subsets in primary immunodeficiency that progress with antibody deficiency. Methods: The patients' naive, memory, class-switched memory and non-switched memory B cells were compared with those of healthy individuals of matching ages using flow cytometry. Results: A total of 67 patients with antibody deficiency and 28 healthy children of matching ages were included in the study. The median age of the patients was six years (min-max: 1-24) and 40 (59.7%) were male. The median age of the healthy controls was again six years (min-max: 1-17) and 12 (42.8%) were male. Patients with common variable immunodeficiency had higher relative counts of naive cells when compared with the control group; however, they were found to have lower relative counts of memory, relative and absolute counts of non-switched and relative counts of switched B lymphocytes (p=0.001, 0.023, 0.003-0.003, 0.001, respectively). In patients with selective IgA deficiency, similar to patients with common variable immunodeficiency, the relative counts of naive cells were found to be higher, while the relative counts of memory and relative and absolute counts of non-switched B lymphocytes were found to be lower when compared with the control group (p=0.011, 0.032, 0.006-0.009, respectively). Although patients with selective IgM deficiency had higher relative counts of naive B cells when compared with the control group, they had lower relative and absolute counts of non-switched B lymphocytes (p=0.008-0.016). Conclusions: The B lymphocyte subsets of patients with selective IgA deficiency are largely similar to those of patients with common variable immunodeficiency. Both illness groups exhibit low levels of memory B cells. (C) 2016 SEICAP. Published by Elsevier Espana, S.L.U. All rights reserved.

The first case of postoperative endophthalmitis after cataract surgery caused by Aspergillus ustus, a species that has only rarely been implicated in human disease, is described. Six weeks after cataract surgery, a 67-year-old medically controlled diabetic patient presented with uveitis, mild ciliary injection and ocular discomfort. Anterior chamber paracentesis, vitreous tap and finally complete vitrectomy with removal of the capsular bag including the intraocular lens were performed and several sets of culture yielded A. ustus. Despite vigorous systemic (itraconazole and caspofungin) and intravitreal (amphotericin B and caspofungin) antifungal therapy, the endophthalmitis did not improve. The painful eye with marked inflammation was finally enucleated. In vitro susceptibility testing of the isolate showed that it appeared resistant to amphotericin B, caspofungin, itraconazole, voriconazole, and posaconazole, and susceptible to terbinafine.

Boucherit, Soraya/0000-0002-8819-7594; Lorenzo, Lazaro/0000-0001-6648-8684; Jouanguy, Emmanuelle/0000-0002-7358-9157; Zhang, Shen-Ying/0000-0002-9449-3672; Abel, Laurent/0000-0001-7016-6493; Seppanen, Mikko/0000-0001-9733-3650; Ciancanelli, Michael/0000-0002-4623-852X; Hautala, Timo/0000-0001-7889-1614; Casanova, Jean-Laurent/0000-0002-7782-4169; Byun, Minji/0000-0002-2830-4079 WOS: 000345301000005 PubMed: 25339207 Objective: To determine the proportion of children with herpes simplex encephalitis (HSE) displaying TLR3 deficiency, the extent of TLR3 allelic heterogeneity, and the specific clinical features of TLR3 deficiency. Methods: We determined the sequence of all exons of TLR3 in 110 of the 120 patients with HSE enrolled in our study who do not carry any of the previously described HSE-predisposing mutations of TLR3 pathway genes (TLR3, UNC93B1, TRIF, TRAF3, and TBK1). All the new mutant TLR3 alleles detected were characterized experimentally in-depth to establish the causal relationship between the genotype and phenotype. Results: In addition to the 3 previously reported TLR3-deficient patients from the same cohort, 6 other children or young adults with HSE carry 1 of 5 unique or extremely rare (minor allele frequency

WOS: 000185389100008 PubMed: 13680511 Trichosporon asahii (T asahii) is an uncommon cause of yeast infection in preterms. We present a 27-week gestational age female with clinical evidence of sepsis, such as patchy infiltrations on chest roentgenogram, and yeast growing in urine and blood cultures. Conventional amphotericin B was empirically added in a dose of 0.5 mg/kg, q8h to standard protocol of the neonatal intensive care unit. Dose of the drug was induced to 1 mg/kg because the patient had not improved when the organism was identified as T asahii on the pretreatment urine and blood cultures. Both cultures were clear on the 10th day of amphotericin B therapy and treatment was ceased on the 21st day. The patient was healthy when discharged. Trichosporon infections in neonates have been almost uniformly fatal. Most strains of T asahii may be confused with Candida spp. on initial culture examinations. Therefore, delays in appropriate treatment may occur.

Background: Transient tachypnea of the newborn (TTN) is usually a benign self-limiting respiratory disorder in the immediate neonatal period. The lipophilic surfactant-associated protein B (SP-B) was demonstrated to be the most relevant structural component of the surfactant system for immediate postnatal pulmonary adaptation. We hypothesized genetic variations of surfactant protein B (heterozygous 121 ins 2 mutation er intron 4 polymorphisms) to be related to TTN. Patients and Method: We screened genomic DNA of 83 healthy term neonates (gestational age: 39 (37 - 41) completed weeks [median and range]; birth weight: 3325 ± 541 grams [mean ± SD]) and 75 infants presenting with TTN (gestational age: 38 (37 - 41) completed wecks [median and range]; birth weight: 3091 ± 435 grams [mean ± SD]) by means of PCR-amplification, fragment length and sequence analysis. TTN was diagnosed an the basis of the clinical signs with respiratory rate > 60 breaths/minute, fraction of inspired oxygen > 0.21, and characteristic radiographic findings within less than 24 hours after birth. Newborns with any infection, pulmonary or cardiac congenital malformations, postnatal asphyxia and infants born to diabetic mothers were excluded. Results: In TTN-group the frequency of male infants (68.4 % versus 44.6 %, p 60/min, FiO2 > 0,21 und charakteristischen radiologischen Befunden innerhalb der ersten 24 h nach Geburt. Neugeborene mit Infektionen, angeborenen kardialen oder pulmonalen Fehlbildungen, Asphyxie und Kinder diabetischer Mutter wurden ausgeschlossen. Ergebnisse: In der TTN-Gruppe war der Anteil an mannlichen Neugeborenen (68,4 % versus 44,6 %, p < 0.05) und Sectio-Entbindungen im Vergleich zur Kontrollgruppe signifikant hoher (68,4% versus 30,1 %, p < 0,05). Die Haufigkeit der Intron 4-Polymorphismen unterschied sich nicht zwischen Kontroll- und TTN-Gruppe (8,4 % versus 10,7 %). Bei keinem der untersuchten Patienten fand sich eine heterozygote 121ins2-Mutation. Schlussfolgerung: Polymorphismen in den untersuchten Genabschnitten sind nicht fur das Krankheitsbild der TTN verantwortlich.

WOS: 000361503500010 PubMed: 25456532 Background: Ataxia telangiectasia (A-T) is a genetic disorder caused by the homozygous mutation of the A-T mutated gene. It is frequently associated with variable degrees of cellular and humoral immunodeficiency. However, the immune defects in A-T patients are not well characterized. To the best of our knowledge, no studies have focused on the major lymphocyte subpopulations and recent thymic emigrants of A-T patients in comparison with age-matched healthy controls. Methods: Following the European Society for Immunodeficiencies criteria, 17 patients diagnosed with A-The, and 12 age-matched healthy children were assigned to the study. Both patients and healthy controls were grouped as 1-5, 6-10, 11-15, and 15+ years. By using a flow cytometer, major lymphocyte subpopulations and CD4+CD45RA+CD31+ recent thymic emigrants were determined as percentage and absolute cell numbers and compared. Results: No significant differences in all lymphocyte subpopulations were observed between the age groups of A-T patients. Compared to the healthy controls, there was a decrease in T cells, effector memory T4 cells, B cells, naive B cells, naive 14 cells, switched B cells, and recent thymic emigrants and an increase in active 18 cells and non-switched B cells in the percentage and absolute number of some cell populations in the A-T group. Conclusions: This study showed that effector functions in some cell lymphocyte populations were decreased in A-T patients. (C) 2014 SEICAP. Published by Elsevier Espana, S.L.U. All rights reserved.

Ikinciogullari, Aydan/0000-0003-1145-0843; Pinto, Jorge A/0000-0003-2987-3238; Dogu, Figen/0000-0002-7869-4941; FRANCO, JOSE/0000-0001-5664-6415; Nishikomori, Ryuta/0000-0002-9407-6158; Al-Tamemi, Salem/0000-0002-7232-2629; Nishikomori, Ryuta/0000-0002-9407-6158; Rezaei, Nima/0000-0002-3836-1827; Roxo-Junior, Persio/0000-0001-6318-4132; Grumach, Anete/0000-0002-9803-0309; Morio, Tomohiro/0000-0002-9259-1025 WOS: 000333531700025 PubMed: 24679470 Background: Severe combined immunodeficiency (SCID) is a syndrome characterized by profound T-cell deficiency. BCG vaccine is contraindicated in patients with SCID. Because most countries encourage BCG vaccination at birth, a high percentage of patients with SCID are vaccinated before their immune defect is detected. Objectives: We sought to describe the complications and risks associated with BCG vaccination in patients with SCID. Methods: An extensive standardized questionnaire evaluating complications, therapeutics, and outcomes regarding BCG vaccination in patients given a diagnosis of SCID was widely distributed. Summary statistics and association analysis was performed. Results: Data on 349 BCG-vaccinated patients with SCID from 28 centers in 17 countries were analyzed. Fifty-one percent of the patients had BCG-associated complications, 34% disseminated and 17% localized (a 33,000- and 400-fold increase, respectively, over the general population). Patients receiving early vaccination (

ObjectiveTo explore the influences of migration to a Western country on obesity and related risk factors by comparing measures of body composition and energy balance-related behaviours between Turkish adolescents in Turkey (TR-TR) and adolescents from Turkish immigrant ethnicity in the Netherlands (TR-NL).DesignCross-sectional survey or baseline intervention data from six Dutch school-based studies and one Turkish study.SettingPrimary and secondary schools.SubjectsA total of 915 (49 % girls; mean age 13·1 (sd 0·8) years) TR-TR adolescents and 433 (51 % girls; mean age 11·7 (sd 1·3) years) TR-NL adolescents were included. Outcome measures were self-reported sugar-containing beverage consumption, fruit and vegetable intake, screen time, physical activity, measured body height and weight, BMI, waist and hip circumferences, and skinfold thicknesses.ResultsOur data showed that more TR-NL adolescents were overweight (31 % v. 26 %) and obese (9 % v. 6 %) and had significantly higher mean BMI (21·1 v. 20·0 kg/m2), waist circumference (72·2 v. 71·3 cm) and suprailiac skinfold thickness (19·8 v. 13·1 mm) than TR-TR adolescents. TR-NL adolescents reported significantly higher sugar-containing beverage consumption (1173 v. 115 ml/d), less fruit and vegetable intake (295 v. 647 g/d), less screen time (253 v. 467 min/d) and higher physical activity levels (61 v. 27 min/d) than TR-TR adolescents.ConclusionsImmigrant adolescents in the Netherlands were more often overweight and had a less favourable dietary pattern than their peers in Turkey, while their physical activity and screen time patterns were more favourable. These results suggest that adolescents from Turkish immigrant ethnicity in the Netherlands have adopted lifestyles towards the host culture.

ozkaya, ozan/0000-0002-0198-1221 WOS: 000341959300003 PubMed: 25064839 Heterozygous mutations in the NLRP12 gene have been found in patients with systemic auto-inflammatory diseases. However, the NLRP12-associated periodic fever syndromes show a wide clinical spectrum, including patients without classical diagnostic symptoms. Here, we report on a 20-year-old female patient diagnosed with common variable immunodeficiency (CVID), who developed intestinal amyloidosis and carried novel compound heterozygous mutations in NLRP12, identified by whole exome and transcriptome sequencing. CVID is a primary immunodeficiency characterized by low serum immunoglobulins, recurrent bacterial infections and development of malignancy, but it also presents with a magnitude of autoimmune features. Because of the unspecific heterogeneous clinical features of the disease, a delay in diagnosis is common. Secondary, inflammatory (AA type) amyloidosis has infrequently been observed in CVID patients. Based on our case observation and a critical review of the literature, we suggest that NLRP12 mutations might account for a small fraction of CVID patients with severe auto-inflammatory complications. (C) 2014 Elsevier Inc. All rights reserved. CSL Behring; German Federal Ministry of Education and Research (BMBF)Federal Ministry of Education & Research (BMBF) [1315883]; Jeffrey Modell Foundation This work was supported in part by CSL Behring, the German Federal Ministry of Education and Research (BMBF 1315883) and the Jeffrey Modell Foundation. We are grateful for the efforts of Ning Wang in sequence analysis.

Background: Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disorder of phagocytes resulting in impaired killing of bacteria and fungi. A mutation in one of the 4 genes encoding the components p22(phox), p47(phox), p67(phox), and p40(phox) of the leukocyte nicotinamide dinucleotide phosphate reduced (NADPH) oxidase leads to autosomal recessive (AR) CGD. A mutation in the CYBB gene encoding gp91(phox) leads to X-linked recessive CGD., Background Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disorder of phagocytes resulting in impaired killing of bacteria and fungi. Amutation in one of the 4 genes encoding the components p22phox, p47phox, p67phox, and p40phox of the leukocyte nicotinamide dinucleotide phosphate reduced (NADPH) oxidase leads to autosomal recessive (AR) CGD. Amutation in the CYBB gene encoding gp91phox leads to X-linked recessive CGD. Objective The aim of this study is to show the correlation between clinical, functional, and genetic data of patients with CGD from Turkey. Methods We report here the results of 89 patients with CGD from 73 Turkish families in a multicenter study. Results Most of the families (55%) have an AR genotype, and 38% have an X-linked genotype; patients from 5 families with a suspected AR genotype (7%) were not fully characterized. We compared patients with CGD according to the severity of NADPH oxidase deficiency of neutrophils. Patients with A220, A670 or X910 phenotypes with a stimulation index of 1.5 or less have early clinical presentation and younger age at diagnosis (mean, 3.2 years). However, in p47phox-deficient cases and in 5 other AR cases with high residual oxidase activity (stimulation index≥ 3), later and less severe clinical presentation and older age at diagnosis (mean, 7.1 years) were found. Pulmonary involvement was the most common clinical feature, followed by lymphadenitis and abscesses. Conclusion Later and less severe clinical presentation and older age at diagnosis are related to the residual NADPH oxidase activity of neutrophils and not to the mode of inheritance. CGD caused by A220 and A670 subtypes manifests as severe as the X910 subtype.

Effects of agmatine, an endogenous metabolite formed by decarboxylation of L-arginine, on ethanol-induced gastric mucosal injury were investigated in rats. Agmatine at 1 and 10 mg/kg i.p doses significantly increased ethanol-induced gastric mucosal injury. This effect of agmatine was abolished completely by pretreatment with idazoxan, an imidazoline receptor-antagonist and alpha2 receptor- antagonist, (0.5 mg/kg i.p), partly by yohimbine, an alpha2 receptor- antagonist, (1 mg/kg i.p) but not by L-arginine, a precursor of nitric oxide, (500 mg/kg i.p). Our results suggest that agmatine had a potent ulcerogenic effect mediated, at least in part, by both alpha2-adrenoceptors and imidazoline receptors.

The analgesic effects of verapamil, a calcium channel blocker, and chloramphenicol, a phenicolated antibiotic, were compared using the test of acetic-acid-induced writhing and the hot-plate test in mice. The results suggest that both drugs have antinociceptive properties comparable to salicylate analgesia. No significant difference was found between verapamil- and chloramphenicol-induced analgesia (p < 0.05).

Pityriasis versicolor is a common superficial mycotic disease of the skin which is caused by different species of Malassezia genus. The aim of this study was to contribute to the knowledge of the aetiology of pityriasis versicolor (PV) with a mycological study made according to the new species and additionally, the success of the different sampling techniques, duration and recurrence history of the disease, distribution of infecting strains according to the affected body sites were also investigated. In total, 146 patients with pityriasis versicolor were included in this study. Fungal elements could only be visualized by potassium hydroxide examination in 36.4% of the samples. Specimens obtained by scraping skin surface by a sterile scalpel and/or sterile sticky plaster (OpSite) were inoculated in plates containing modified Dixon's medium. Out of 146 samples, 109 (74.7%) yielded a growth which was considered to be Malassezia spp. in culture. Species level identification of suspicious Malassezia yeasts was made according to their macroscopic and microscopic features, and their physiological characteristics. Among the identified species, Malassezia globosa (65.1%) was the most commonly isolated species, followed by Malassezia obtusa (17.4%). However, four Malassezia isolates could not be identified at species level with conventional methods. While most of the patients suffered their first episode of pityriasis versicolor (76%), back of the trunk was the mostly affected body site (39%). In conclusion, Malassezia globosa was found to be the predominant species in pityriasis versicolor patients in our region, and culture of the specimen is necessary for the epidemiologic purposes.

To compare the efficacy of lansoprazole and famotidine in the treatment of gastric ulcer, 24 patients with gastric ulcer were treated for 8 weeks. They were assessed by endoscopic ultrasonography (EUS), which provides cross-sectional images of the gastric wall as well as endoscopic images. Patients were randomly assigned to receive either lansoprazole 30 mg once daily (n = 12), or famotidine 20 mg twice daily (n = 12). The healing rate after 4 weeks of treatment was 80% in the lansoprazole group and 40% in the famotidine group. After 8 weeks of treatment, the respective healing rates were 100 and 72.7%. Healing to Sakita's S 2 stage of scarring occurred significantly more often in the lansoprazole group than in the famotidine group after 4 weeks (50% vs. 0% ; p < 0.05). After 4 weeks of treatment, the submucosal fibrous tissues detected by EUS were significantly less extensive in the lansoprazole-treated patients with deep ulcers (reaching the muscle layer or serosa) than in the famotidine-treated patients with deep ulcers (p < 0.01). These results suggest that lansoprazole may be more effective in ulcer healing than famotidine, particularly in patients with deep gastric ulcers.