Medicine and Health Sciences Commons^™

The Association Of Vaspin Rs2236242 And Leptin Rs7799039 Polymorphism With Metabolic Syndrome In Egyptian Women, Amina Alnory, Hoda Gad, Gehan Hegazy, Olfat Shaker

Turkish Journal of Medical Sciences

Background/aim: Genetic predisposition is implicated in the etiology of metabolic syndrome. This study aimed to investigate the1397645907association of vaspin rs2236242 and leptin rs7799039 polymorphisms with their serum levels and with the risk of developing metabolic syndrome in Egyptian women.1397645907 Materials and methods: This case control study included 100 Egyptian women with metabolic syndrome and 100 without metabolic syndrome. The genotypes of vaspin rs2236242 and leptin rs7799039 were detected by a methodology based on PCR-RFLP. Serum vaspin and leptin levels were determined by ELISA. Results: The metabolic syndrome group was associated with higher serum vaspin and leptin levels when compared to …

The Efficacy Of Oral Ribavirin On Clinical And Laboratory Parameters Incrimean?Congo Hemorrhagic Fever: An Observational Study From Turkey*, Günay Ertem, Meli̇ha Çağla Sönmezer, Fati̇h Temoçi̇n, Çi̇ğdem Ataman Hati̇poğlu, Necla Tülek, Behi̇ç Oral

Turkish Journal of Medical Sciences

Background/aim: In this observational study, the effects of oral ribavirin on clinical and laboratory parameters and blood products use in patients with Crimean-Congo hemorrhagic fever (CCHF) were evaluated. Materials and methods: CCHF patients (n = 100) who were hospitalized between 2007 and 2010 were included. Oral ribavirin was administered to 56 patients with symptom duration less than 5 days. Forty-four patients did not receive ribavirin (control group). The patients that received ribavirin in the first 3 days following the initiation of symptoms were designated as Group 1 (n = 29) and the others were designated as Group 2. Results: Ribavirin-treated …

The Effects Of Sebum Configuration On Demodex Spp. Density, Hati̇ce Gamze Demi̇rdağ, Hamdi̇ Özcan, Şule Gürsoy, Gülçi̇n Beker Akbulut

Turkish Journal of Medical Sciences

Background/aim: Demodex spp. are ectoparasites living in the pilosebaceous units, which feed on the host's sebum and cellular proteins. The protective barrier of the skin consists of sebum secretion, moisture, and the acid mantle. In this study, we aimed to determine the effects of skin sebum, moisture, pH levels, and sebum configuration on Demodex spp. density Materials and methods: Forty-five patients who had demodicosis were enrolled in the study group, while the control group consisted of 40 subjects without demodicosis. Body fat percentage, serum triglyceride and cholesterol levels, skin sebum, moisture, and pH levels were measured. Demodex spp. density was …

Serum Procalcitonin And C-Reactive Protein Kinetics As Indicators Of Treatmentoutcome In Hospitalized Patients With Community-Acquired Pneumonia, Mehmet Sezai̇ Taşbakan, Canan Gündüz, Abdullah Sayiner, Aykut Çi̇lli̇, Burcu Çelenk Karaboğa, Ayşin Şakar Coşkun, Feri̇de Durmaz Yaman, Oğuz Kilinç, Öznur Kiliç Soylar

Turkish Journal of Medical Sciences

Background/aim: There has been growing interest in the use of serum procalcitonin (PCT) and C-reactive protein (CRP) in patients with community-acquired pneumonia (CAP). The aim of this study was to investigate whether an assessment of fever, leukocyte count, and serum CRP and PCT levels on admission and during follow-up (day 3) provides any information about the clinical outcome in hospitalized patients with CAP. Materials and methods: Patients with a diagnosis of CAP who were admitted to and followed at four university hospitals were evaluated retrospectively using the Turkish Thoracic Society Pneumonia Database. Results: A total of 103 hospitalized CAP patients …

Comparison Of Ultrasonographic And Laboratory Findings Of Acute Cholecystitis Between Elderly And Nonelderly Patients, Zeli̇ha Asi̇ltürk Lülleci̇, Sebahat Başyi̇ği̇t, Ferdane Pi̇ri̇nççi̇ Sapmaz, Meti̇n Uzman, Ayşe Kefeli̇, Abdullah Özgür Yeni̇ova, Yaşar Nazligül

Turkish Journal of Medical Sciences

Background/aim: The incidence of acute cholecystitis (AC) increases with age, and aging is also one of the poor prognostic factors. Aging is related to altered physiology, so diseases may show different characteristics in elderly patients. We aimed to investigate the differences between the main characteristic features of AC in elderly and nonelderly patients. Materials and methods: In this retrospective study, patients who had a diagnosis of AC were included and divided into two groups of people aged

Lung Transplantation In Turkey: Lessons From Surgeons And Pulmonologists, Gül Dabak, Levent Dalar, Erdal Taşçi, Stephen Clark

Turkish Journal of Medical Sciences

Background/aim: In order to actualize an efficient lung transplantation program, it is necessary to determine priorities and set up strategies. This study aimed to estimate the present situation in Turkey by determining the level of interest and knowledge of pulmonologists and thoracic surgeons regarding lung transplantation. Materials and methods: A questionnaire was prepared to establish the level of interest and knowledge of physicians on lung transplantation. It was sent to 2131 pulmonologists and thoracic surgeons, and 130 physicians completed the questionnaire. Results: Of the 130 physicians who responded, 42 were thoracic surgeons and 88 were pulmonologists. There was no significant …

The Increasing Incidence Of Esophageal Squamous Cell Carcinoma In Women In Turkey, Ati̇la Eroğlu, Yener Aydin, Bayram Altuntaş, Betül Gündoğdu, Ömer Yilmaz

Turkish Journal of Medical Sciences

Background/aim: This study assessed the trend changes in the histological types of esophageal cancer in a 25-year period in eastern Turkey. Materials and methods: We searched all cases of esophageal cancer from 1990 to 2015 according to their histological diagnosis and sex, grouping the patients in 5-year time periods to evaluate time trends. Results: We identified 1462 cases of esophageal cancer. In terms of patient make-up, 742 were male and 720 were female. In general, 75.86% of the patients had squamous cell carcinoma (SCC), 19.56% of the patients had adenocarcinoma (ADC), and the remaining 4.58% patients were found to have …

Factors Affecting Treatment Success In Community-Acquired Pneumonia, Canan Gündüz, Mehmet Sezai̇ Taşbakan, Abdullah Sayiner, Aykut Çi̇lli̇, Oğuz Kilinç, Ayşin Şakar Coşkun

Turkish Journal of Medical Sciences

Background/aim: Treatment failure in hospitalized patients with community-acquired pneumonia is a major cause of mortality. The aim of this study was to evaluate the factors affecting treatment success in community-acquired pneumonia. Materials and methods: A total of 537 patients (mean age: 66.1 ± 15.8 years, 365 males) registered to the Turkish Thoracic Society Pneumonia Database were analyzed. Of these, clinical improvement or cure, defined as treatment success, was achieved in 477, whereas 60 patients had treatment failure and/or died. Results: Lower numbers of neutrophils (5989.9 ± 6237.3 vs. 8495.6 ± 7279.5/mm3), higher blood urea levels (66.1 ± 42.1 vs. 51.2 …

Determination Of Genotypic Varieties And Genotyping Of Multiple Drug-Resistant Tuberculosis By The Rflp And Spoligotyping Methods, Teki̇n Karsligi̇l, Ayşen Bayram, Fahri̇ye Ekşi̇

Turkish Journal of Medical Sciences

Background/aim: The purpose of the present study was to determine the distribution and epidemiological features of mycobacteria with molecular methods. Materials and methods: Fifty-five culture-positive samples were analyzed by polymerase chain reaction-restriction enzyme length polymorphism (PCR-RFLP) at species level, and their molecular typing was performed with spoligotyping. The IS6110 region and the locus of gene coding for Hsp65 were amplified. RFLP profiles were obtained by cutting the Hsp65 region with the Hae III and BstE II (Eco91I) enzymes. Spoligotyping was carried out by commercial kit. The H37Rv strain was used as the control. Results: All samples showed the same cutting …

Genotypic Analysis Of Escherichia Coli Strains That Cause Urosepsis In The Aegean Region, Betül Gi̇ray, Füsun Bahri̇ye Uçar, Sabi̇re Şöhret Aydemi̇r

Turkish Journal of Medical Sciences

Background/aim: The aim of this study was to characterize strains genotypically, to determine their phylogenetic relationships, to investigate the presence of the papG gene, and to compare their antibiotic susceptibility test results. Materials and methods: Seventy pathogenic E. coli strains were isolated from both urine and blood cultures of patients with the preliminary diagnosis of urosepsis who were referred to the Ege University Faculty of Medicine, Bacteriology Laboratory of Medical Microbiology Department in İzmir. All of these strains were examined for the papG gene and phylogenetic groups with the multiplex polymerase chain reaction technique. Pulsed-field gel electrophoresis and multilocus sequence …

The Protective Effects Of Hydrogen On Ho-1 Expression In The Brainafter Focal Cerebral Ischemia Reperfusion In Rats, Xifeng Wang, Lianshuang Zhang, Wei Zhao, Tongshen Liu

Turkish Journal of Medical Sciences

Background/aim: The aim of this study was to investigate whether a hydrogen administration can produce neuroprotective effects after brain ischemia reperfusion in rats. Materials and methods: A brain ischemia reperfusion injury was induced by a 2-h left middle cerebral artery occlusion (MCAO) using an intraluminal filament, followed by 46 h of reperfusion. A hydrogen-rich saline (1 mL/kg body weight i.p.) was administered at the beginning of reperfusion. Saline (1 mL/kg)-treated animals were used as the control. Sham-operated animals were also used. Subsequently, 48 h after the MCAO, histological alternations, heme oxygenase-1 (HO-1) expression, and levels of malondialdehyde (MDA) and superoxide …

Effect Of Methylprednisolone Injection On Interleukin-4 And Interferon-Gamma Expression Following Hepatitis B Vaccination In Mice, Peter Ughachukwu, Paul Okonkwo, Prince Unekwe, John Ogamba

Turkish Journal of Medical Sciences

Background/aim: The prevalence of hepatitis B infection is high worldwide with liver cirrhosis and hepatocellular carcinoma as important complications. Immunosuppression, especially from corticosteroids, is often cited as a cause of poor immune response and there is documented evidence of irrational administration of glucocorticoids to children and adults. Decreased expression of interleukin-4 and interferon-gamma is an indication of poor humoral and cellular immune responses, respectively. Therefore, we decided to find out if methylprednisolone injection decreases interleukin-4 and interferon-gamma expression following hepatitis B vaccination in mice. Materials and methods: Mice were randomly divided into 2 groups. Daily intramuscular injections of methylprednisolone (15 …

Analysis Of Diabetes-Related Cerebellar Changes In Streptozotocin-Induced Diabetic Rats, Nuri̇ye Güzi̇n Özdemi̇r, Feray Akbaş, Tuğba Koti̇l, Adem Yilmaz

Turkish Journal of Medical Sciences

Background/aim: Diabetic peripheral neuropathy has been extensively studied and reported, but the number of studies that have investigated diabetes-related changes in the central nervous system are limited, with even fewer studies on the cerebellum. The aim of this experimental study was to perform a histologic analysis of the diabetes-related changes in the cerebellums of diabetic rats. Materials and methods: Twenty Sprague Dawley rats weighing between 200 and 220 g were included in the study. Diabetes was induced in 14 of these rats by a single intraperitoneal injection of 65 mg/kg streptozotocin dissolved in saline, while 6 animals constituted the control …

Faster Movement Speed Results In Greater Tendon Strain During The Loaded Squat Exercise, Jacob E. Earp, Robert U. Newton, Prue Cormie, Anthony J. Blazevich

Research outputs 2014 to 2021

Introduction:

Tendon dynamics influence movement performance and provide the stimulus for long-term tendon adaptation. As tendon strain increases with load magnitude and decreases with loading rate, changes in movement speed during exercise should influence tendon strain.

Methods:

Ten resistance-trained men [squat one repetition maximum (1RM) to body mass ratio: 1.65 ± 0.12] performed parallel-depth back squat lifts with 60% of 1RM load at three different speeds: slow fixed-tempo (TS: 2-s eccentric, 1-s pause, 2-s concentric), volitional-speed without a pause (VS) and maximum-speed jump (JS). In each condition joint kinetics, quadriceps tendon length (L_T), patellar tendon force (F_{T …}

Diagnostic Accuracy Of Noninvasive End-Tidal Carbon Dioxide Measurement In Emergency Department Patients With Suspected Pulmonary Embolism, Meli̇h Yüksel, Murat Pekdemi̇r, Serkan Yilmaz, Eli̇f Yaka, Asli Gülfer Kartal

Turkish Journal of Medical Sciences

Background/aim: Pulmonary embolism (PE) is a frequent health problem representing a diagnostic challenge with high mortality and morbidity rates. The aim of this study was to investigate the value of end-tidal carbon dioxide (ETCO2) and alveolar dead space fraction (ADSF) in the diagnosis of PE. Materials and methods: ETCO2 levels of patients with suspected PE were measured with a noninvasive mainstream sensor. ADSF of patients was calculated and PaCO2 levels were also obtained. ROC curve analysis was used to determine diagnostic values of ETCO2 and ADSF for PE. Results: The study included 159 patients. The mean values for ETCO2 and …

Analgesia Followed By Long-Term Hyperalgesia Generated By Disinhibition Of The Basolateral Amygdala, Derek Atchley

Wayne State University Theses

Stress produces bimodal effects on pain peception. During exposure to a stressor pain responses are inibited (i.e. stress-induced analgesia). However, following long-term exposure to a stressor increases in responsiveness to painful stimuli may develop (i.e. stress-induced hyperalgesia). Here I evaluated how a key component of the subcortical defense circuit and target of stress hormones contributes to the development of both stress-induced analgesia and hyperalgesia. Bicuculline methiodide, a GABAA antagonist, injected into the basolateral amygdala was used to mimic the neural effects of a stressor or threat exposure. Immediately following injection pain responsiveness was decreased as measured by vocalizations after discharge …

The Anti-Inflammatory Caspase-12 Gene Does Not Influence Sle Phenotype In African-Americans, Trista Fuchs, Jennifer A. Kelly, Emily Simon, Kathy L. Sivils, Evan Hermel

Faculty Publications & Research of the TUC College of Osteopathic Medicine

No abstract provided.

Epigenetics And Shared Molecular Processes In The Regeneration Of Complex Structures, Labib Rouhana, Junichi Tasaki

Biological Sciences Faculty Publications

The ability to regenerate complex structures is broadly represented in both plant and animal kingdoms. Although regenerative abilities vary significantly amongst metazoans, cumulative studies have identified cellular events that are broadly observed during regenerative events. For example, structural damage is recognized and wound healing initiated upon injury, which is followed by programmed cell death in the vicinity of damaged tissue and a burst in proliferation of progenitor cells. Sustained proliferation and localization of progenitor cells to site of injury give rise to an assembly of differentiating cells known as the regeneration blastema, which fosters the development of new tissue. Finally, …

Identification And Characterization Of Dna Repair Snf2/Swi2 Atpases In Tetrahymena Thermophila, Andrew Francis Morin

Graduate Theses/Dissertations

The Snf2/Swi2 ATPases Rad5 and Rad16 have been shown to play vital roles in a number of DNA repair pathways. In both Saccharomyces cerevisiae and human cell lines, Rad5 homologs (SHPRH, HLTF) have been shown to function in DNA double strand break (DSB) repair along with pathways that repair damage after replication. The function of Rad16, unlike Rad5, has been found only in lower eukaryotes such as Saccharomyces, despite the fact that it plays an essential role in nucleotide excision repair (NER), and more specifically in the repair of silenced areas of the genome. In order to more fully understand …

Stress-Induced Reinstatement Of Drug Seeking: 20 Years Of Progress, John R. Mantsch, David A. Baker, Douglas Funk, Anh D. Lê, Yavin Shaham

Biomedical Sciences Faculty Research and Publications

In human addicts, drug relapse and craving are often provoked by stress. Since 1995, this clinical scenario has been studied using a rat model of stress-induced reinstatement of drug seeking. Here, we first discuss the generality of stress-induced reinstatement to different drugs of abuse, different stressors, and different behavioral procedures. We also discuss neuropharmacological mechanisms, and brain areas and circuits controlling stress-induced reinstatement of drug seeking. We conclude by discussing results from translational human laboratory studies and clinical trials that were inspired by results from rat studies on stress-induced reinstatement. Our main conclusions are (1) The phenomenon of stress-induced reinstatement, …

The Level Of Nmda Receptor In The Membrane Modulates Amyloid-Β Association And Perforation, Christian Peters, Fernando J. Sepúlveda, Eduardo Fernández-Pérez, Robert W. Peoples, Luis G. Aguayo

Biomedical Sciences Faculty Research and Publications

Alzheimer’s disease is a neurodegenerative disorder that affects mostly the elderly. The main histopathological markers are the senile plaques formed by amyloid-β peptide (Aβ) aggregates that can perforate the plasma membrane of cells, increasing the intracellular calcium levels and releasing synaptic vesicles that finally lead to a delayed synaptic failure. Several membrane proteins and lipids interact with Aβ affecting its toxicity in neurons. Here, we focus on NMDA receptors (NMDARs) as proteins that could be modulating the association and neurotoxic perforation induced by Aβ on the plasma membrane. In fact, our results showed that decreasing NMDARs, using enzymatic or siRNA …

Genetic Variation In The Histamine Production, Response, And Degradation Pathway Is Associated With Histamine Pharmacodynamic Response In Children With Asthma., Bridgette Jones, Catherine M T Sherwin, Xiaoxi Liu, Hongying Dai, Carrie A. Vyhlidal

Manuscripts, Articles, Book Chapters and Other Papers

Introduction: There is growing knowledge of the wide ranging effects of histamine throughout the body therefore it is important to better understand the effects of this amine in patients with asthma. We aimed to explore the association between histamine pharmacodynamic (PD) response and genetic variation in the histamine pathway in children with asthma. Methods: Histamine Iontophoresis with Laser Doppler Monitoring (HILD) was performed in children with asthma and estimates for area under the effect curve (AUEC), maximal response over baseline (Emax), and time of Emax (Tmax) were calculated using non-compartmental analysis and non-linear mixed-effects model with a linked effect PK/PD …

Constellation: A Tool For Rapid, Automated Phenotype Assignment Of A Highly Polymorphic Pharmacogene,, Greyson P. Twist, Andrea Gaedigk, Neil A. Miller, Emily G. Farrow, Laurel K. Willig, Darrell L. Dinwiddie, Josh E. Petrikin, Sarah E. Soden, Suzanne Herd, Margaret Gibson, Julie A. Cakici, Amanda K. Riffel, J Steven Leeder, Deendayal Dinakarpandian, Stephen F. Kingsmore

Manuscripts, Articles, Book Chapters and Other Papers

An important component of precision medicine-the use of whole-genome sequencing (WGS) to guide lifelong healthcare-is electronic decision support to inform drug choice and dosing. To achieve this, automated identification of genetic variation in genes involved in drug absorption, distribution, metabolism, excretion and response (ADMER) is required. CYP2D6 is a major enzyme for drug bioactivation and elimination. CYP2D6 activity is predominantly governed by genetic variation; however, it is technically arduous to haplotype. Not only is the nucleotide sequence of CYP2D6 highly polymorphic, but the locus also features diverse structural variations, including gene deletion, duplication, multiplication events and rearrangements with the nonfunctional, …

Ketogenic Diet Decreases Emergency Room Visits And Hospitalizations Related To Epilepsy., Husam R. Kayyali, Anastasia Luniova, Ahmed Abdelmoity

Manuscripts, Articles, Book Chapters and Other Papers

Background. Approximately, one-third of patients with epilepsy are refractory to pharmacological treatment which mandates extensive medical care and imposes significant economic burden on patients and their societies. This study intends to assess the impact of the treatment with ketogenic diet (KD) on reducing seizure-related emergency room visits and hospitalizations in children with refractory epilepsy. Methods. This is a retrospective review of children treated with the KD in one tertiary center. We compared a 12 months' period prior to KD with 12 months after the diet was started in regard to the number of emergency department (ED) visits, hospitalizations, …

Introduction To Bioethics Special Supplement V: Ethical Issues In Genomic Testing Of Children., John D. Lantos

Manuscripts, Articles, Book Chapters and Other Papers

Next-generation genome sequencing of children is one of the most promising and most challenging new technologies in pediatrics. On the one hand, it offers the hope that we will be able to diagnose rare conditions that were previously impossible to diagnose, which, in turn, might lead to new treatments. On the other hand, the technology for sequencing presents daunting problems of interpretation. It is problematic to conduct the research necessary to characterize the pathogenicity of those variants at the same time that we are using them to guide the clinical care of children who have complex medical problems. It is …

Estrogen Regulation Of Mir-181a Stability In Neurons, Chun Kim

Master's Theses

Estrogens are an important class of steroid hormones involved in many cellular signaling processes. Levels of estrogens fluctuate across the lifespan suggesting that they target intracellular mediators, such as microRNAs, to fine-tune homeostatic cellular processes. Previous work in our lab demonstrated that 17β-estradiol (E2), the predominant circulating estrogen, stabilized miR-181a in a neuronal cell line derived from rat hypothalamus. These results lead to the hypothesis that E2 regulated miR-181a stability by altering the pool of endogenous RNA and by recruiting PNRC2 away from the miRNA degradation machinery. By utilizing miRNA degradation assays and immunostaining techniques, it was determined that the …

Comparison Of Choroidal Thickness Measurements Between Spectral-Domain Oct And Swept-Source Oct In Normal And Diseased Eyes, Sidra Zafar, Ma Rehman Siddiqui, Rida Shahzad

Medical College Documents

Purpose: Sub-foveal choroidal thickness (SFCT) is affected in many ocular diseases. The aim of this study was to compare SFCT measurements between Topcon 3D 2000 spectral-domain optical coherence tomography (SD-OCT) and Topcon swept-source OCT (SS-OCT), with different laser wavelengths, in normal and diseased populations.MATERIALS AND Methods: This was a prospective, cross-sectional, noninterventional study including 27 normal volunteers and 27 participants with retinal disease. OCT scans were performed sequentially and under standardized conditions using both SD-OCT and SS-OCT. The OCT scans were evaluated by two independent graders. Paired t-tests and intraclass correlation coefficients (ICCs) were used to assess the statistically significant …

Euglycemic Diabetic Ketoacidosis In A 27 Year-Old Female Patient With Type-1-Diabetes Treated With Sodium-Glucose Cotransporter-2 (Sglt2) Inhibitor Canagliflozin, Nimrah Bader, Lubna Mirza

Medical College Documents

We are reporting a timely case of atypical euglycemic diabetic ketoacidosis in a type 1 diabetic patient treated with sodium-glucose cotransporter-2 (SGLT-2) inhibitor canagliflozin. The clinical history, physical examination findings and laboratory values are described. Other causes of acidosis such as salicylate toxicity or alcohol intoxication were excluded. Ketoacidosis resolved after increasing dextrose and insulin doses supporting the hypothesis that SGLT-2 inhibitors may lead to hypoinsulinemia. Euglycemic ketoacidosis did not recur in our patient after discontinuing canagliflozin. We recommend reserving SGLT2 inhibitor therapy to type 2 diabetics, discontinuing medication and treating patients presenting with ketoacidosis due to SGLT-2 inhibitors with …

Genomic Imbalances In Peripheral Blood Confirm The Diagnosis Of Myelodysplastic Syndrome In A Patient Presenting With Non-Immune Hemolytic Anemia, Mohammad Faizan Zahid, Nadia Khan, Jianming Pei, Joseph R. Testa, Essel Dulaimi

Medical College Documents

Myelodysplastic syndrome (MDS) is a clonal stem-cell disorder characterized by dyshematopoiesis. We report a patient who presented with cytopenias and microangiopathic hemolytic anemia. Chromosome microarray analysis (CMA), using single nucleotide polymorphism arrays, on peripheral blood revealed genomic imbalances indicative of MDS, which was confirmed by bone marrow examination. This report highlights the importance of suspecting MDS in patients with cytopenias and microangiopathic hemolytic anemia. CMA of peripheral blood may assist in the preliminary diagnosis of MDS, representing a comparatively less invasive diagnostic procedure and may aid bone marrow evaluation when an aspirate sample is insufficient for conventional cytogenetic analysis.

Diagnostics Of Primary Immunodeficiencies Through Next-Generation Sequencing., Vera Gallo, Laura Dotta, Giuliana Giardino, Emilia Cirillo, Vassilios Lougaris, Roberta D'Assante, Alberto Prandini, Rita Consolini, Emily G. Farrow, Isabelle Thiffault, Carol J. Saunders, Antonio Leonardi, Alessandro Plebani, Raffaele Badolato, Claudio Pignata

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Recently, a growing number of novel genetic defects underlying primary immunodeficiencies (PIDs) have been identified, increasing the number of PID up to more than 250 well-defined forms. Next-generation sequencing (NGS) technologies and proper filtering strategies greatly contributed to this rapid evolution, providing the possibility to rapidly and simultaneously analyze large numbers of genes or the whole exome.

OBJECTIVE: To evaluate the role of targeted NGS and whole exome sequencing (WES) in the diagnosis of a case series, characterized by complex or atypical clinical features suggesting a PID, difficult to diagnose using the current diagnostic procedures.

METHODS: We retrospectively analyzed …