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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. Purpose and Methods: 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). Results: 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. Conclusions: 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:000659780700002 34114123 Q1

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.

Skin-only avulsion is a particular type of avulsion surgery. In this type of injury, tendons, bones, and joints maintain their integrity. In this report, we aimed to report the promising results of replantation in seven fingers with total skin-only avulsions. From 2007 to 2015, 6 patients with a mean age of 34.6 (20–52) who underwent replantation surgery for total skin-only avulsion injuries distal to metacarpophalangeal (MP) joint were evaluated according to the injury type, etiology, level of repair, and the repaired structures. Seven fingers of 6 patients were evaluated. The mean repaired artery and vein number were 1.5 (1–2) and 3.8 (3–5), respectively. The mean percentage of partial necrosis in the three fingers and an amputated finger was 25.70%. Three fingers survived completely, whereas three developed partial necrosis which were managed by debridement and full thickness skin grafting. Mean static and dynamic two-point discriminations were 6 mm and 3.83 mm, respectively. The mean ROM degree of PIP/IP joints and DIP joints was 74.1 (60–85) and 56.6 (40–70) degrees, respectively. The mean follow-up was 28.3 months (24–36). Skin-only avulsions are a particular type of avulsion injury and very challenging to treat. In order to avoid from the partial necrosis due to the vascular deprivation of perforating branches of the proper digital artery, we recommend repairing both arteries in this type of avulsion. Skin-only replantation results can be successful when several technical details are observed. Level of evidence: Level V, therapeutic study.

Objectives/background This study was conducted to describe the dietary patterns and diet quality and to examine the correlation between diet quality, dietary patterns (Mediterranean or DASH) and migraine attributes. Methods Individuals between the ages of 18-64 who applied to the headache outpatient clinic and were diagnosed with episodic migraine were evaluated by a neurologist. Healthy Eating Index-2010 was used to determine the diet quality. Dietary Approaches to Stop Hypertension compliance scale and Mediterranean Diet Adherence Screener were used to describe the dietary patterns. Results It was found that individuals with a low Mediterranean Diet Adherence Screener score had more severe disability and more severe and frequent attacks (p < 0.05). In addition, a significant negative correlation was found between Mediterranean Diet Adherence Screener score and attack severity (r = -0.733, p < 0.05). Individuals with a low Dietary Approaches to Stop Hypertension compliance scale score had more severe and frequent attacks (p < 0.05). There was a significant negative correlation between attack severity and Dietary Approaches to Stop Hypertension compliance scale scores (r = -0.700, p < 0.001). Individuals with poor diet quality had more severe migraine attacks compared to others (p < 0.05). A significant negative correlation was found between diet quality total score and attack severity (r = 0.458, p < 0.05). High diet quality scores and higher vegetables, fruits, legumes, and oil seeds subscores, DASH and Mediterranean dietary patterns were associated with lower migraine attack severity (p < 0.05). Conclusion A nutritional approach that adopts the Mediterranean diet or involves a good diet quality pattern can help alleviate the symptoms of individuals with migraine.

WOS: 000440304500009, PubMed: 30023975, Objective: Foreign-body and penetration injuries of the hand are common emergencies. Metallic foreign bodies are common among all foreign masses; however, the examination of huge bodies differs from that of other metallic masses. The purpose of this study was to clarify an algorithm for the management of the huge metallic masses via our therapeutic approaches for metal-penetrating injuries. Material and Methods: Seven patients who had a huge, metallic object-penetration injury to their upper extremity were included in our study. Patients were classified according to the age, injury type, character of metallic body, injury zone, diagnostic methods, anesthesia type, and treatment received, and an algorithm to approach the management of foreign metallic bodies was clarified. Results: The causes of injury were knitting hook, iron fence, mixer, and metal nail. Plain radiography was performed for all patients. Prophylactic tetanus was administered and urgent exploration in the operation room under tourniquet followed by foreign-body extraction through cutting and not pulling were conducted. No residue was retained. Conclusion: Many patients referred to emergency services with foreign bodies. For diagnosis, the patient's history and a minimum of two-way radiograms are crucial. For treatment, we recommend surgical exploration under general anesthesia and tourniquet and extraction of the metallic body by cutting and not pulling without retaining any residual mass in the operation room.

Son dönemde popüler bir konu haline gelen bağırsak mikrobiyotası günümüzde vücudun bir organı olarak tanımlanmaktadır. Yaş, genetik, beslenme, fiziksel aktivite gibi birçok faktör bağırsak mikrobiyotasını etkilemektedir. Bu faktörlerin başında gelen diyet, faydalı veya zararlı bakteri türlerinin sayısına ve çeşitliliğine etki etmektedir. Akdeniz diyeti, vejetaryen diyet, glutensiz diyet, yüksek proteinli diyet, Paleo diyet, düşük karbonhidrat içeren diyet, açlık diyetleri gibi farklı diyet modelleri bulunmaktadır. Bu diyet modelleri bakteri sayısı ve çeşitliliğinin yanı sıra, bakteri metabolitlerini, inflamasyon göstergelerini, bağırsak geçirgenliğini, oksidatif stresi, bağırsak homeostazı ve disbiyozisine etki ederek organizmayı etkilemektedir. Bu derlemede farklı diyet modellerinin bağırsak mikrobiyotası üzerine olası etkisi irdelenmiştir.

Fetuin-A is a glycoprotein structured molecule which is mostly released by the liver. As a multifunctional protein, fetuin-A has positive effects on health such as calcification, cardiovascular diseases and tumor development processes with various mechanisms, whereas it plays a negative role in the processes of obesity, diabetes and fatty liver disease. There are a large number of studies reporting that serum fetuin-A levels are affected by several dietary factors. It is reported in some of these studies that several nutrients increase fetuin-A release, while some others have adverse effects. It is put forward that some nutrients such as dairy products, curcumin, niacin, palmitate, coffee and alcohol consumption decrease fetuin-A level, and dietary omega-3 fatty acids intake may increase fetuin-A concentration. In addition, it is indicated that high blood glucose levels increase hepatic fetuin-A release by activating extracellular signal-regulated kinase 1/2 enzymes and increased plasma free fatty acids do the same effect by increasing NF-B-K activity. Despite these studies in the literature, there is not any review evaluating fetuin-A, chronic diseases and nutrition together. Therefore, in this study, the relationship between serum fetuin levels and some diseases and the effects of nutrients on fetuin A levels were investigated with possible mechanisms.

Introduction Flexor tendon repair techniques that can resist active forces are widely accepted. Despite that many suture techniques have been described, the "perfect repair" for flexor tendons cannot be achieved yet. We aimed to compare a new loop suture technique with commonly used flexor tendon repair methods biomechanically in hen tendon. Method We used 25 hen flexor tendons for each group (4-strand modified Kessler, grasping cruciate, Tsuge, and new technique groups). After the tendons were divided into 2, they were repaired according to these 4 techniques, were subjected to the initial stretching of 0.5 N, and pulled in the opposite directions. When a gap of 2 mm occurred, the test was terminated and the forces at that time were recorded. These strain forces were compared and evaluated statistically. Results New technique had the best tensile strength results statistically. Modified Kessler and grasping cruciate took the second place and Tsuge repair gave the worst strain forces results. Conclusions With loop suture, 4 strands can be obtained with only 2 passes of the needle, and we think that much more tensile strength can be achieved because of the vertical transition and locking configurations of the new loop suture technique.

Parkinson's disease (PD) is a neurodegenerative disease characterized by motor impairment and the accumulation of alpha-synucleinopathy (alpha-syn), which can affect different levels of the brain-gut axis. There is a two-way communication between the gastrointestinal tract, and brain that includes the gut microbiota. This bidirectional communication between the gut microbiota and the brain includes many pathways, such as immune mechanisms, the vagus nerve, and microbial neurometabolite production. The common cause of constipation in PD is thought to be the accumulation of alpha-syn proteins in the enteric nervous system. Recent studies have focused on changes in microbial metabolites and gut microbiota dysbiosis. Microbiota dysbiosis is associated with increased intestinal permeability, intestinal inflammation, and neuroinflammation. Many factors, such as unbalanced nutrition, antibiotic use, age, and infection, result in alteration of microbial metabolites, triggering alpha-syn accumulation in the intestinal mucosa cells. Increased evidence indicates that the amount, type, and balance of dietary macronutrients (carbohydrates, proteins, and fats); high consumption of vegetables, fruits, and omega-3 fatty acids; and healthy diet patterns such as the Mediterranean diet may have a great protective impact on PD. This review focuses on the potential benefits of prebiotics, probiotics, and synbiotics to regulate microbiota dysbiosis along with the effect of diet on the gut microbiota in PD.

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.

Fetuin-A (Alfa 2-Heremans-Schmid) is a glycoprotein that is mainly synthesized by hepatocytes and then released into the bloodstream. While fetuin-A, a multifunctional protein, has inhibitory effects on health in the processes of calcification, mineralization, coronary artery calcification (CAC), and kidney stone formation by various mechanisms, it has such stimulatory effects as obesity, diabetes, and tumor progression processes. Fetuin-A produces these effects on the organism mainly by playing a role in the secretion levels of some inflammatory cytokines and exosomes, preventing unwanted calcification, inhibiting the autophosphorylation of tyrosine kinase, suppressing the release of adiponectin and peroxisome proliferator-activated receptor-gamma (PPAR gamma), activating the toll-like receptor 4 (TLR-4), triggering the phosphatidylinositol 3 (PI3) kinase/Akt signaling pathway and cell proliferation, and mimicking the transforming growth factor-beta (TGF-beta) receptor. In the present review, fetuinA was examined in a wide perspective from the structure and release of fetuin-A to its effects on health.

Background/aim: The aim of this study was to investigate the effect of vitamin D on the disease prognosis and biochemical parameters in patients with mild obstructive sleep apnea syndrome (OSAS). Materials and methods: Nineteen adult male individuals (18-65 years) who were diagnosed with mild OSAS after polysomnography and had low vitamin D levels were included in the study. Each week, patients took 50.000 IU Vitamin D3 supplementation for 8 weeks. Polysomnography, biochemical parameters FBG (fasting blood glucose), lipid profile (TG, TC, LDL-C, HDL-C, VLDL-C), calcium, phosphorus, parathormone, calcitonin, serum 25(OH)D, insulin, CRP, TNF-alpha, IL-6, and IL-10 of patients were evaluated at the beginning of study and at the end of the study. All assessments, including polysomnography, were repeated after 8 weeks. Results: Serum vitamin D levels were initially 19.5 +/- 5.01 ng/mL and increased to 41.8 +/- 10.51 ng/mL (p < 0.001) at the end of the study. FBG, TC and HOMA-IR of the patients were significantly decreased (p < 0.05). CRP, TNF-alpha, IL-6, and IL-10 levels were also correlated with serum vitamin D levels (p < 0.05). There was a significant decrease in number of obstructive apneas, apneas and hypopneas, apnea index, hypopnea index, and apnea hypopnea index of the patients (p < 0.05). Conclusion: As a result, it is thought that vitamin D supplementation may have a positive effect on the disease prognosis of mild OSAS.

WOS: 000500336000002, PubMed: 31799405, Objectives Better healing results of any tissue or area is closely linked with a well-blood supply in reconstructive surgery. Peripheric nerve healing is closely related to blood supply as well. We aimed to assess whether there was any difference between digital nerve healing with and without extrinsic blood supply. Methods We assessed 48 patients with unilateral digital nerve injury at zone 2. Twenty-four of them had unrepairable arterial injury and other 24 had no arterial injury. The 24 patients in the "unrepaired artery group" (UA) and 24 patients in the "intact artery group" (IA) were compared. Results Mean follow-up time was 17.7 months. The mean two-point discrimination (2PD) was 5.29 mm in IA group and 5.37 mm in UA group. One neuroma in IA group and two neuromas in UA group were determined. We found no statistically significant difference between these groups in terms of neuroma, 2PD, and cold intolerance. The results of British Medical Research Council sensory recovery clinical scale were comparable for these two groups. Conclusion Digital nerve healing is related to numerous factors. We hypothesized that blood flow may be one of these factors; however, at this zone digital artery repair is not the foremost determinant for digital nerve healing. Further researches should be done for upper injury levels. Despite this result, we argue not to leave the digital artery without repairment and we propose to repair both artery and nerve to achieve the normal anatomical integrity and to warrant finger blood flow in possible future injuries.

Epidermoid inclusion cyst in palmar localization is very rare. We present an unusual case of palmar epidermoid inclusion cyst which causes Dupuytren-like contracture in hand. A 32-year-old male patient was complaining of the traction feeling of the mass. The mass was excised surgically, it was a hairy nodule like structure and reported as epidermoid inclusion cyst. Cystic lesions are very common masses. However epidermoid inclusion cysts in the palmar region are important because they may arise from the eccrine ducts and may be relevant with HPV infections. Thus, HPV screening should also be done in such a case. [Hand Microsurg 2018; 7(3.000): 170-172]

WOS: 000492876500001, PubMed: 31667349, Foreign bodies are common entities found in hand surgery practice. However, they are a very rare cause of the acute cubital tunnel syndrome. A 48-year-old male patient was consulted for cubital tunnel symptoms after 2-day unconscious state in the intensive care unit. The ulnar nerve was explored, a piece of glass was removed inside the cubital tunnel, and the nerve was repaired. However, compression neuropathy symptoms due to the acute trauma are interesting. Nerve laceration with a foreign body should be considered in acute-onset cubital tunnel syndrome, in which the foreign body history of a trauma patient cannot be determined explicitly.

e15587 Background: Expanded RAS analysis is essential for the selection of biologic agents in mCRC. RAS mutations indicates anti-EGFR unresponsiveness. In this study, we aimed to investigate RAS and BRAF mutations by liquid biopsy at progression in patients with RAS mutant mCRC. Methods: Sixty patients with mCRC who harbored tissue RAS mutations were prospectively analyzed between July 2019 and April 2020. All the patients treated with chemotherapy plus bevacizumab combinations . The plasma samples of the patients were analyzed after progression of bevacizumab combinations. RAS mutation profile was evaluated in plasma using Idylla PCR-based molecular diagnostics method, which enables rapid detection of common mutations in RAS and BRAF genes in circulating tumor DNA (ctDNA). Kaplan-Meier method was used for survival analysis and log-rank test was performed for comparison of groups. Results: The median age of the patients was 60 years (IQR:35-83 years) and female was (n=23, 38.3%). Primary tumor was located in the left colon in 81.7% of all patients. There were 95.0% KRAS and 5% NRAS mutations in baseline tissue biopsy. As a result of liquid biopsy after progression, 55.0% of the patients had KRAS, 3.3% NRAS and 3.3% had BRAF mutations. The RAS mutation detected in 58.3% of the patients. While there was no significant difference in terms of clinicopathological features between wild type (RAS/BRAF) and mutant type (RAS/BRAF) determined by liquid biopsy, the overall survival (OS) of the wild type group was significantly longer than mutant group (43.8 vs. 20.4 months, p= 0.002). Conclusions: This study demonstrated that there may be changes in RAS/BRAF mutation from plasma analysis after progression in patients with mCRC. Since better survival in the patient group with wild type was detected compared to the RAS concordance group, the evaluation of RAS mutation status at the time of progression may be important in terms of disease prognosis and treatment options.

WOS: 000448749100002, PubMed: 30377655, Cyst hydatid in the lung is still a health problem for many countries. It develops in the lung and can grow into the lung parenchyma. When it is diagnosed as a giant cyst, surgery should be performed. In the surgery, capitonnage is necessary to protect the lung parenchyma.

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.

In reconstructive hand surgery, flaps and therefore microsurgical techniques are inevitable to provide the best functional and aesthetic results. There are various complications of defect repair with microsurgical methods. We aimed to classify subacute and late unexpected complications that develop after defect repair by microsurgical methods and to present the management. Patients who underwent microvascular flap surgery for upper extremity tissue defects between 2014-2018 were included in the study. Complications other than total flap loss were retrospectively investigated and recorded. 8 patients (6 Male, 2 Female) were included to the study. 5 left and 3 right hand defects were detected. 3 fingers, 3 hand dorsum, 1 wrist and 1 forearm defects were detected. 2 marginal necrosis, 2 partial flap loss, 1 venous insufficiency, 1 nonunion, 1 skin contracture and 1 burn were the determined complications. Most defects present with different traumas in hand. The trauma zone is almost always close to the area of microvascular repair, moreover the recipient artery may not always be intact. How the bone fixation is performed is very important, covering the bone should be provided with well-blooded tissues. While providing all these, this coverage should not be bulk and should not restrict the range of motion in the hand. Having grasping function necessitates a repair that puts the function in the foreground compared to other areas in the body. Subclinical infections of hand in patients presenting with post-traumatic defects may cause nutritional problems, which may impair wound healing. Such a problem can also be confused with the arterial deprivation of the flap. The absolute sense requirement distinguishes the hand area from the reconstruction of many areas. All these are challenging difficulties in choosing flap for defects in the hand. [Hand Microsurg 2021; 10(2.000): 116-126]

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.

Despite scaphoid fractures are common, simultaneously bilateral scaphoid fractures are rare cases. Most fractures of the scaphoid, especially the nondisplaced fractures of the waist and distal part, are able to heal spontaneously with proper casting. Although the scaphoid fracture is commonly seen among patients who fell on their outstretched hands, those with a history of falling on both hands are rarely seen and bilaterality should not be overlooked. It may be necessary to review the treatment plan once again in bilateral cases. A 48-year-old male patient was referred to our hand surgery clinic with below elbow thumb spica cast on his right hand 3 days after trauma. When the detailed history was questioned, it was observed that the patient fell from a height of 8 meters, there was pain in his right hand when he was in the emergency room, and pain in his left hand began after he had left the emergency room. The patients X-ray and CT images for his both hands were obtained. Bilateral acute simultaneous nondisplaced scaphoid waist fractures were diagnosed and bilateral compression screw fixation was planned. However, patient didnt accept the operation and bilateral below elbow thumb spica casts were applied. Complete union and normal wrist range of motion were achieved. The major challange of this case is the treatment because applying bilateral cast causes difficulties in performing his daily activities besides loss of work hours. Although, most of nondisplaced waist fractures can be treated with proper casting in bilateral cases surgical treatment is considered one step ahead from casting. [Hand Microsurg 2021; 10(2.000): 164-168]

Osteoarthritis of the hand is rare; however, the most retained joint after the distal interphalangeal joint is the first carpometacarpal (1. CMC) joint. Pain in the rest and increased pain with opposition is the most serious symptom, which significantly decreases the quality of life. The aim of these patients is to obtain a painless and stable thumb. Experience of trapeziectomy and ligament reconstruction tendon interposition technique for a Stage III patient was shared and diagnosis and treatment were discussed through the relevant literature. A 53-year-old female patient was admitted with complaints of pain in the right hand thumb root and unable to open the jar lid. In direct radiography, narrowing in the 1. CMC joint space and osteophytes were detected. After the trapeziectomy, 1st and 2nd metacarpals were fixed with K wire. Flexor carpi radialis tendon was passed from the first metacarpal base to the second metacarpal base in the form of a distal-based tendon flap to mimic the beak ligament. There was no pain at the postoperative 6th month, and the Kapandji opposition score was 10. When diagnosing 1. CMC osteoarthritis, pain during opposition and circumduction movements that is not relieved with analgesics and rest is the most important symptom for a clinician to look for. Many treatment principles have been defined according to the staging for the postdiagnosis period, despite the diagnosis is a challenging process.

Objective: Placing gold implants in the upper eyelids is a widely accepted method in lagophthalmos treatment. Gold can be obtained as custom-made or from medical firms, as well as from jewelers. This review intends to share the algorithm applied in our clinic, to help avoid undesirable postoperative results. Material and Methods: Between 2012 and 2014, seven patients were planned to undergo gold implant surgery for lagophthalmos. In each of the seven cases preoperative weight tests were performed in upright-seated position, incision site and implant weights were measured, and the determined weights were tested twice, sterilization was applied. Results: None of the patients showed any early or late complications. Complete closure of the eyelids was achieved. Aesthetic evaluations of the patients were found to be better than the physician’s evaluations. Conclusion: The weight of the gold is the most important factor that determines the success of the implant treatment. It is possible to reduce postoperative morbidity and increase success by adhering to simple preoperative criteria when gold is obtained from jewelers, a cost-effective method that yields high patient satisfaction.

Trigger finger is a disorder that presents with a blocking feeling and pain during finger movements. This condition more commonly occurs in the 2nd finger with involvement of multiple digits being extremely rare. There are very few known cases in which trigger finger was developed in all ten fingers. Here, an unusual case of ten-digit finger trigger is presented. A 44-year-old female housewife visited our clinic with painful blocking feeling in her hand. Her examination was compatible with trigger finger. Her hands were operated on in different sessions and A1 pulleys of all fingers were released. After the operations, blocking feeling and pain during flexion disappeared and normal range of motion was obtained. On the occasion of this very rare case, the etiology and approach for multiple trigger fingers is discussed. [Hand Microsurg 2016; 5(2.000): 84-87]

Tuberculosis (TB) is a disease that mainly affects the lungs and is primarily caused by Mycobacterium tuberculosis bacteria. However, the hand involvement is extremely rare. Diagnosing the tenosynovitis due to the tuberculosis is the main challenge for the surgeons. It is aimed to present a case of Mycobacterium tenosynovitis of the hand and outline the treatment protocol for its diagnosis. 46-year-old male patient was presented with swelling in his right hand. Physical examination revealed no pathology except for swelling in the right thenar region. Magnetic resonance imaging (MRI) revealed chronic tenosynovitis. Synovectomy was planned for the patient, and following the thenar incision, mass formations in the form of pale-yellow rice grains were found inside the thickened sheath of the flexor pollicis longus. Since these formations suggested TT intraoperatively, the intraoperative wound culture, samples for acid-resistant staining, TB DNA, and TB culture, as well as pathology samples, were taken. Intraoperative suspicion of TT is extremely important in order to prove the diagnosis. Although TB that affects the hand is rare, it is an element of tenosynovitis that must be kept in mind in areas where TB is endemic. Rice bodies are important guiding agents for intraoperative diagnosis and subsequent treatment.

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.

YILDIRAN, Fatma Azize BUDAK/0000-0001-7031-6834; DINCEL, Gungor Cagdas/0000-0002-6985-3197; KISA, Ucler/0000-0002-8131-6810 WOS: 000478887200003 PubMed: 29355394 Aim: Today, spinal cord injury (SCI) can be rehabilitated but cannot be treated adequately. This experimental study was conducted to investigate possible beneficial effects of methylprednisolone and parecoxib in treatment of SCI. Materials and methods: Forty-eight male Wistar albino rats were assigned into CONTROL, acute (MP-A, PX-A, and PXMP-A), and subacute (MP-S, PX-S, and PXMP-S) stage groups. Then, to induce SCI, a temporary aneurysm clip was applied to the spinal cord following T7-8 laminectomy, except in the CONTROL group. Four hours later parecoxib, methylprednisolone, or their combination was administered to rats intraperitoneally except CONTROL, SHAM-A, and SHAM-S groups. Rats in the acute stage group were sacrificed 72 h later, and whereas rats in the subacute stage were sacrificed 7 days later for histopathological and biochemical investigation and for gene-expression analyses. Results: Parecoxib and methylprednisolone and their combination could not improve histopathological grades in any stage. They also could not decrease malondialdehyde or caspase-3, myeloperoxidase levels in any stage. Parecoxib and methylprednisolone could decrease the TNF-alpha gene expression in subacute stage. Methylprednisolone could increase TGF-1 beta gene-expression level in acute stage. Conclusion: Neither of the experimental drugs, either alone or in combination, did not show any beneficial effects in SCI model in rats. Kirikkale University Scientific Research Project Coordination UnitKirikkale University [2014/076] This study was financially supported by Kirikkale University Scientific Research Project Coordination Unit (Project Number: 2014/076).

WOS: 000448391200014 PubMed: 29620677 Ataxia-telangiectasia (A-T) is a multisystem disease caused by a genetic defect located on the long arm of chromosome 11 (11p22-23). The gene defect results in the loss of A-T-mutated protein, subsequently leading to unrepaired DNA fractures and defects in the signal transduction pathway. As a result, characteristic findings arise, including recurrent sinopulmonary infections, hypersensitivity against ionized radiation with the tendency to develop cancer related to progressive cerebellar ataxia, pathognomonic oculocutaneous telangiectasias, varying degrees of humoral and cellular immunodeficiency, and infertility. This case report presents a 3-year-old male patient with A-T who developed hemophagocytic syndrome. To the best of our knowledge, no such case has been previously reported.

Böbrek, protein metabolizmasında aminoasitlerin ve peptidlerin sentezi, yıkımı, filtrasyonu, geri emilimi ve idrar yoluyla atılması gibi yolaklarda önemli rolleri olduğu bilinen organdır. Fenilalanin-tirozin dönüşümü, arjinin metabolizması ve transmetilasyon gibi birçok işlevi ile aminoasit metabolizmasına katkı sağlayan böbrekler aynı zamanda düşük molekül ağırlıklı plazma proteinleri ve peptidlerin katabolizması için önemli işleve sahiptir. Böbrek hastalıklarında böbreğin işlev bozuklukları ve/veya kayıplarına bağlı olarak gelişen metabolik asidoz, inflamatuvar süreç, hastalığın tıbbi beslenme tedavisindeki protein kısıtlamaları, diyaliz tedavisi gibi birçok etmen protein metabolizmasında değişikliklere yol açmaktadır. Değişen protein metabolizmasıyla birlikte böbrek hastalığı tanısı almış bireyin diyette aldığı protein miktarı ve türü ön plana çıkmaktadır. Diyaliz almayan böbrek yetmezliği hastalarında gerekli olan durumlarda çok düşük proteinli diyetler yerini ılımlı protein kısıtlamasına bırakırken, diyaliz alan hastalarda artan aminoasit kayıpları ve katabolizma nedeniyle diyetteki protein miktarının arttırılması uygun görülmektedir. Bu derlemede böbreklerin protein metabolizmasındaki rolüne ve böbrek hastalıkları sonucu ortaya çıkabilecek metabolik ve nütrisyonel sorunlara odaklanmak amaçlanmıştır.

Autoimmune and neuroimmune diseases prevalence rates are rising enormously. It would be difficult to explain with genetic and environmental factors. Noteworthy, this rising maybe related with childhood vaccine programs. There is also a lack of information about this topic in pediatric and family medicine practice in some countries like Turkey. Prevention and treatment of these diseases is possible if pathogenesis could be well understood. We attempt to review this topic in immunological and neurological perspectives for this purpose. We searched Pubmed from year 2000 to date with neuroimmune, autoimmune, measles and vaccine link keywords in some combinations and related topics. The obtained information from this search dealt with some important subheadings. There is a need for further investigations of neuroimmune disease and the possible vaccine link.

WOS: 000350167200008, PubMed ID: 25703555, Tuberculosis (TB), caused by Mycobacterium tuberculosis (M.tb) and a few related mycobacteria, is a devastating disease, killing more than a million individuals per year worldwide. However, its pathogenesis remains largely elusive, as only a small proportion of infected individuals develop clinical disease either during primary infection or during reactivation from latency or secondary infection. Subacute, hematogenous, and extrapulmonary disease tends to be more frequent in infants, children, and teenagers than in adults. Life-threatening primary TB of childhood can result from known acquired or inherited immunodeficiencies, although the vast majority of cases remain unexplained. We review here the conditions conferring a predisposition to childhood clinical diseases caused by mycobacteria, including not only M.tb but also weakly virulent mycobacteria, such as BCG vaccines and environmental mycobacteria. Infections with weakly virulent mycobacteria are much rarer than TB, but the inherited and acquired immunodeficiencies underlying these infections are much better known. Their study has also provided genetic and immunological insights into childhood TB, as illustrated by the discovery of single-gene inborn errors of IFN- immunity underlying severe cases of TB. Novel findings are expected from ongoing and future human genetic studies of childhood TB in countries that combine a high proportion of consanguineous marriages, a high incidence of TB, and an excellent clinical care, such as Iran, Morocco, and Turkey., European Research CouncilEuropean Research Council (ERC) [ERC-2010-AdG-268777]; French National Research Agency (ANR)French National Research Agency (ANR) [ANR-10-IAHU-01, ANR-08-MIEN-014-02]; Institut National de la Sante et de la Recherche Medicale, Universite Paris DescartesInstitut National de la Sante et de la Recherche Medicale (Inserm); St. Giles Foundation; Rockefeller University from the National Center for Research Resources [8ULTR000043]; National Center for Advancing Sciences (NCATS) of the National Institute of Health; Rockefeller University; 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) [U01AI088685, R01AI089970, R37AI095983], We thank all clinicians from many countries around the world for their help and contribution in the investigation of TB patients. Special thanks to A. Strickler and J. F. Emile for providing the pictures. We also thank all members of the Necker and Rockefeller branches of the Laboratory of Human Genetics of Infectious Diseases. This work was supported by grants from the European Research Council (ERC-2010-AdG-268777), the French National Research Agency (ANR) under "the Investments for the Future" grant number ANR-10-IAHU-01, ANR-08-MIEN-014-02, Institut National de la Sante et de la Recherche Medicale, Universite Paris Descartes, the St. Giles Foundation, the Rockefeller University grant number 8ULTR000043 from the National Center for Research Resources and the National Center for Advancing Sciences (NCATS) of the National Institute of Health, the Rockefeller University, the National Institute of Allergy and Infectious Diseases grant number U01AI088685, R01AI089970, and R37AI095983. The authors have no financial or commercial conflict of interest to declare.

WOS: 000408345600004, PubMed: 28825029, Introduction Esophageal foreign body (FB) in all age groups can cause serious morbidity or mortality. The study aims to report our experience retrieving FBs from the upper esophagus in children using Magill forceps. Materials and Methods In this study, 88 patients (45 males [51.1%] and 43 females [48.9%]) were presented with suspected FB ingestion. FB ingestion was determined via endoscopic analysis, or lateral and posterior-anterior radiographies, including oropharynx, neck, chest, and abdomen. Cases were classified into seven groups, according to history, diagnostic method, and postintervention findings, as follows: (1) coins, (2) toys, (3) metals, (4) bones, (5) battery, (6) glass, and (7) food. A laryngoscope was used to elevate the larynx and expose the esophageal entrance. Magill forceps were advanced into the esophagus and opened to observe and extract the FB. Results All 88 patients who underwent endoscopic examination due to suspected FB ingestion were confirmed to have ingested a FB. Median age was 12 years; 15 patients were aged < 5 years; 63 (71.5%) were diagnosed based on routine radiographic findings, and others were diagnosed based on physical findings and history. The most common type of FB was coins (n = 51 [57.9%]). Mean surgical duration was 20 minutes. Conclusion FBs located at cervical esophageal level are usually the most difficult to remove. Magill forceps should be used before other methods.

WOS: 000387039400009, PubMed: 28825000, Introduction Plantar fibromatosis is a rare hyperproliferative disease of plantar aponeurosis and is also called Ledderhose disease. Case properties and treatment are discussed in this report. Case Report A 30-year-old man presented with painful bilateral plantar nodules. He had multiple and bilateral fixed and solid nodules on the plantar and medial side of his feet measuring 1 cm each. Ultrasound was performed and hypoechoic homogeneous nodules were detected. The patient underwent surgery, and the nodes were removed via a plantar incision with 2-cm safety distance. Discussion Ledderhose disease is a rare, hyperproliferative disorder of the plantar aponeurosis. The nodules are slow growing and found in the medial part of the plantar fascia. The precise etiology remains unknown. The treatment options are conservative management, steroid injections, radiotherapy, and surgery. Conclusion The main cause of this disease remains uncertain. Related conditions should be evaluated, and a patient who presents with Dupuytren or Peyronie disease should also be investigated for Ledderhose disease.

Pseudoaneurysms involving the leakage of blood between the arterial wall and the peripheral parenchyma can occur as a result of an artery's perforation. In this case report, we present a repair, using a vein graft, of a thrombosed pseudoa- neurysm that developed in a radial artery after a single puncture to obtain a sample for the determination of arterial blood gases. A 56-year-old female patient was admitted with a mass in her left wrist on the radial side. Upon examination, a sen- sitive and mobile mass was detected by palpation. The patient had no fever or any other symptoms of inflammation. Her detailed anamnesis revealed that the mass had developed after a puncture to obtain a blood sample for an arterial blood gas measurement. By using magnetic resonance imaging the mass was determined to be a thrombosed pseudoaneurysm. The mass was excised and the gap that had developed in the radial artery was repaired with a vein graft obtained from the forearm. Magnetic resonance angiography imaging after 1 month confirmed the vein graft's patency. Cannulations for blood monitoring, blood gas analysis and interventional radiological procedures are indispensable processes used in medicine; however, they are not risk-free. Following these procedures, thromboses and pseudoaneurysms can develop. A number of treatment options exist, including bandaging, percutaneous thrombin injections, and surgical treatment for complicated cases. For pseudoaneurysms that create a mass effect, as in our case, surgery is needed. Such complications after interventional procedures involving the radial artery should be kept in mind. [Hand Microsurg 2016; 5(1.000): 26-28]

WOS: 000404965700008 Acute generalized exanthematous pustulosis is an exanthematous disease characterized by a great number of pustules on an acutely erythematous and edematous surface on the skin. These pustules are smaller than 5 mm, have non-follicular localization, and are sterile and superficial. Drugs are held responsible for 90% of the cases and antibiotics are the main culprits. Viral infections, mercury exposure, spider bite and radiation have also been rarely reported as the causative agent. The mortality of AGEP, which is considered to be one of the Severe Cutaneous Adverse Reactions (SCAR), is 5%. Many of the cases reported are adults. Since AGEP is rare in children, we present a ten-month-old boy who developed AGEP after paracetamol use.

Chronic granulomatous disease is an inherited disorder of nicotinamide-adenine dinucleotide phosphate oxidase and results in a defect in intracellular killing of ingested microorganisms characterized by recurrent life threatening bacterial and fungal infections. The disease is classified by mutations in specific subunits of the NADPH oxidase enzyme. There are one X-linked and four autosomal recessive forms of disease. The organisms cultured from lesion of patients with chronic granulomatous disease are generally catalase-producing including Staphylococci, Escherichia coli, Serratia; or fungi such as Aspergillus species. Recurrent or serious infections usually lead to diagnosis of disease in early childhood. We report three male patients who were diagnosed 5, 10, 13 years old, respectively and showed different clinical presentation.

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

Pulmonary hypoplasia is characterized by decrease in the number and size of pulmonary airways, alveoli and vessels. In autopsy, pulmonary hypoplasia is a major cause of death in neonates and infants. The disease is usually diagnosed in childhood period. Although it mimics lung parenchymal disease and other vascular abnormalities radiologically, it is easily recognized with computed tomography angiography and magnetic resonance angiography examinations. In 50% of patients, concomitant cardiovascular, neuromuscular, gastrointestinal tract, and urogenital anomalies are also available. There are two types of pulmonary hypoplasia: primary and secondary. Primary unilateral pulmonary hypoplasia may be asymptomatic and the tendency for bronchopulmonary infections is often increased in children. In this case report, a 22-month-old male patient characterized by recurrent infections and recurrent wheezes in infantile period, whose episodes of wheezing regressed after the pulmonectomy, was presented.

WOS: 000428690900001, PubMed: 29600277, Buschke-Loewenstein tumor (BLT) is a giant condyloma acuminatum which is very rare and commonly affects the anogenital region. The malignant transformation and localization in penis is very rare. This article aims to present a case with BLT with malignant transformation in penis. A 59-year-old male patient was referred, who has have been suffering from a cauliflower-like lesion in the penis for 8 years. Biopsies revealed a BLT with malignant transformation. The lesion was excised largely and reconstructed with local flaps and skin grafts. Defined by Buschke and Loewenstein in 1925, giant condyloma acuminatum is a rare and important disorder because of the sexually transmitting capability.