Kikuchi-Fujimoto Disease (KFD), also called histiocytic necrotizing lymphadenitis, is a rare benign self-limiting condition, commonly characterized by cervical lymphadenopathy and fever. KFD must be included in the differential diagnoses of lymphadenopathy. Clinicians and pathologists should be aware of the occurrence of this entity, for early diagnosis.

Lymphoma work-up involves immunohistochemical stains to help reach the diagnosis. It is imperative to have clinical information and sound knowledge of staining pattern of antibodies to avoid misinterpretation of results. We describe two cases in which pre-biopsy steroid hindered antigenic profile, leading to “cytoplasmic granular staining” and causing delay.

Molecular motors change conformation under the influence of light and when attached to host molecules they may find applications as sensors and switchable catalysts. Here we present a porphyrin macrocyclic host functionalized with two motor appendages for future catalytic applications. The compound is formed as a mixture of six stereoisomers (three sets of enantiomers), which have been separated by (chiral) chromatography. 1H NMR and chiral spectroscopy revealed that in one set of diastereomers the two motors interact with the cavity of the host (bound-bound), whereas in a second set one interacts and the other one does not (bound-loose). In the third set both motors do not interact with the host compound (loose-loose). The motorized hosts bind guest molecules in the order: (loose-loose) > (bound-loose) > (bound-bound). They can be switched with light to pseudo-identical diastereomers, leading to orthogonal behavior in the light-gated binding of guest molecules. Whereas the photo-isomerization of the diastereomer set loose-loose significantly lowers the binding affinity for viologen guests, the opposite is true for the diastereomer set bound-bound, i.e. the binding affinity increases. For the diastereomer set bound-loose no influence on guest binding is observed as the effect of photoisomerization on the motors is cancelled out.

Oil bodies (OBs) are micron- or submicron-sized sub-organelles widely found in plants seeds and nuts. The structure OBs is composed of a core of triglycerides covered by a phospholipid-protein layer, which ensures the stability of the OBs under extreme environmental conditions and further protects core lipids as energy reserves. As naturally pre-emulsified oil-in-water emulsions, OBs have been gradually applied to replace synthetically engineered oil droplets. In this paper, the recent research on the composition, extraction, stability, delivery system, digestion, food applications and future perspectives of plant OBs are reviewed. Recent studies have focused on the OBs surface protein identification and function, large-scale extraction techniques such as enzyme assisted, high pressure, ultrasound, and extrusion and the reconstituted OBs. Electrostatic deposition of polysaccharides significantly improves the stability of OBs emulsions. OBs emulsions have promising applications to encapsulate bioactive compounds, deliver targeted drugs, and prepare gels and edible functional films. The digestive behavior of OBs emulsions is similar to that of protein-stabilized emulsions, which can increase the satiety, effectively help reduce calorie intake and improve the bioavailability of functional factors. It has also promoted the development of simulated dairy, spices and meat products.

Malignant hyperthermia (MH) is a rare life-threatening response that triggered by exposure to specific anesthetics commonly used during surgery interventions. Dantrolene is a well-known drug which used as first-line therapy for MH. A 14-year-old Chinese boy with a mutation in RYR1 whose muscle biopsy diagnosis was central core disease (CCD) occurred MH after cervical spine surgery underwent general anesthesia without volatile anesthetics or succinylcholine. The MH crisis treatment workflow was started and intravenous dantrolene was used soon which combined with sequent continuous veno-venous hemofiltration (CVVH) and plasma exchange (PE) therapy. We explored the pharmacokinetics of dantrolene during the treatment and the results showed that a one-compartment model with first-order absorption and elimination was sufficient to characterize dantrolene pharmacokinetics. The clearance estimate for dantrolene was 0.43 mL/(min*kg) and volume of distribution was 0.61 L/kg. The clearance of dantrolene was significantly affected by CVVH and PE.

Background: Viral infections such as measles virus (MV), herpes virus, and human immunodeficiency virus (HIV) can lead to transient or permanent neurological or psychiatric dysfunction. However, respiratory system affecting viruses have appeared as an unbeatable challenge to the modern world. They include the human respiratory syncytial virus (hRSV), the influenza virus (IV), and the coronavirus (CoV). They cause acute respiratory infections mainly children under 5 years old and also the elderly. The most frequent clinical manifestations are febrile or afebrile seizures, status epilepticus, encephalopathies, and encephalitis. Objective: The objective of this review is to assess the effect of COVID-19 on our mood and thinking during this pandemic. Method: We reviewed the literature using different databases e.g., Google Scholar, PubMed, and Science direct etc. Results: Viral Infections badly affect the nervous system functions and ultimate can lead to the onset of neurological and psychological illnesses. Conclusion: COVID-19 is somehow causing depression, anxiety, panic attacks, and stress. As a consequence, social distancing has increased that has ultimately modified our thinking style, mood and has lead to the psychological, emotional and behavioral changes. Review Criteria We reviewed the literature using different databases e.g., Google Scholar, PubMed, etc. from 1997 to 2021 without language limitations. Message for the clinic It is clear that COVID-19 causes cardiac, respiratory, renal, and gastrointestinal dysfunctions and has also a direct effect on brain functioning resulting in psychological and behavioral changes. Along with other dysfunctions, it has severely affected the living style of people and brought depression, anxiety, panic attacks, loneliness, and self-deprecation. It is highly recommended that while treating such patients, all these aspects should be kept in mind. Hence, not only medication can ameliorate the side impacts of this infection but counseling is another tool to bring positive impact in those respondents.

It is difficult to prove a capable sufficient condition for the exact controllability of systems containing nonlinearities and randomness. As a result, scientists are investigating the concept of approximate controllability for such systems. In this paper, we handle the so-called C-controllability, which was suggested as a weaker analog of the exact controllability at the beginning of the period when controllability issue oversteps to stochastic systems. We prove a sufficient condition of C-controllability for a semilinear stochastic system driven by a Wiener process. This sufficient condition is verified on examples. Two ways of improvement of this sufficient condition are discussed.

Background: The predominant cause of giant left atrium (GLA) is rheumatic mitral valvular disease. GLA is commonly defined echocardiographically by measuring the left atrial diameter (LAD). In the context of changing epidemiology of rheumatic heart disease (RHD) globally, and introduction of left atrial volume index (LAVI), the aetiology of GLA and utility of LAVI for defining GLA may be necessary. Methods: The prospective observational study was carried out at a dedicated tertiary care cardiac centre of a developing country to know the aetiology and clinical pattern of GLA over 8 years. GLA was defined echocardiographically as a left atrium (LA) having a diameter ≥80 mm in the left parasternal long-axis view. Follow-up was made over the telephone. Results: Thirty cases of GLA were diagnosed over 8 years from 2013 to 2021. Twenty two were due to rheumatic heart disease (RHD), 7 due to MVP, and 1 due to flail anterior mitral leaflet. Mean LAD was 92.13 ± 16.72 mm, and the mean LAVI was 288.77 ± 134.40 ml/m2. LA thrombus was present in 5 patients, 6 had spontaneous echo contrast (SEC) in LA, 2 had both LA thrombus and SEC. Mean follow-up was 0.99 ± 1.06 years. Out of 15 patients, 5 died, while 10 were alive. Mean survival was 1.8 ± 1.17 years, ranging from less than 1 year to 4 years. Conclusion: RHD continues to be the predominant cause of GLA; however, MVP is also important. The cut-off value of LAVI for defining GLA needs further study.

In this paper, a nonlocal inverse boundary value problem for a two-dimensional hyperbolic equation with overdetermination conditions is studied. To investigate the solvability of the original problem, we first consider an auxiliary inverse boundary value problem and prove its equivalence (in a certain sense) to the original problem. Then using the Fourier method, solving an equivalent problem is reduced to solving a system of integral equations and by the contraction mappings principle the existence and uniqueness theorem for auxiliary problem is proved. Further, on the basis of the equivalency of these problems the uniquely existence theorem for the classical solution of the considered inverse problem is proved and some considerations on the numerical solution for this inverse problem are presented with the examples.

Aim: The aim of this study was to evaluate the efficacy and side effects of silymarin in the treatment of CIPN. Methods: Patients who referred to outpatient oncology department of a referral educational hospital affiliated to Mazandaran University of Medical Sciences and experienced CIPN were randomized to receive silymarin or placebo. Intervention group received 140 mg of the Silymarin twice daily accompanied and 300 mg/day Gabapentin, whereas control group received 300 mg/day of Gabapentin and placebo twice daily for 3 months. The grade of neuropathy was determined according to the CTCAE criterion. The improvement of neuropathy was defined as the reduction of at least one neuropathic score. The visual analogue scale (VAS) was used to assess the severity of patients’ pain and the EORTC-QLQ-C30 criterion was used to assess the quality of life. Patients were evaluated initially and at the follow up visit 3 months after the enrollment. Results: A total of 80 patients were enrolled in the study. There was no significant difference between the groups in terms of severity of neuropathy at baseline. At the end of the study, the number of people with improved neuropathy in the silymarin group was 82.8% patients, which was significantly higher than 48.4% observed in the patients received placebo (P= 0.005). The silymarin-treated group showed a significant reduction in pain compared with those receiving placebo. Despite the improvement in quality of life in the intervention group compared to the comparison group, this difference was not statistically significant. Gastrointestinal symptoms were the only reported side effects with a similar incidence in two groups. Conclusion: The present data demonstrate the potential clinical use of silymarin as an adjuvant therapy to reduce CIPN symptoms.

Background: Myocarditis have variable clinical presentation, evolution and prognosis. Aim of our study was to evaluate the value of speckle tracking echocardiography and cardiac magnetic resonance (CMR) in the prediction of ventricular arrhythmias and other cardiovascular adverse events in patients with acute myocarditis, at hospital admission. Methods: 70 patients (62 M, 8 F; mean age 31,3±13,2) with myocarditis and preserved left ventricle ejection fraction (LVEF) were enrolled. Electrocardiogram (ECG), continuous ECG monitoring, echocardiography with measurement of global longitudinal strain of the left ventricle (GLS), mechanical dispersion (MD) and CMR with quantitative measurement of delayed enhancement (DE) were performed. Adverse events were assessed (arrhythmias, heart failure, cardiogenic shock, syncope) during in-hospital stay. Results: We found a significant greater amount of DE mass in patients with cardiac arrhythmias (p = 0,01), but not of edema (p = 0,57). GLS was significantly impaired in patients with ventricular arrhythmias (p = 0,04), conversely MD was not significantly prolonged in this setting (p = 0,16). GLS > - 19.2% (sens 100%, specif 55,7%) and a DE mass >9,9 gr (sens 100%; specif. 58,6%) had the best sensitivity and specificity to identify patients with cardiac arrhythmias. Compared to GLS, DE mass showed a stronger association with ventricular arrhythmias (p < 0,001). Conclusions: in our study DE mass and GLS were associated with ventricular arrhythmias in patients with acute myocarditis and preserved LVEF. DE showed the stronger association with the occurrence of ventricular arrhythmias.

In order to study the behavior and mechanism of the bubble breakup in Advanced-Flow Reactor (AFR), visualization experimental study was carried out in a single Corning G1 module. The results show that the breakup behavior in AFR has a significant regularity at low Reynolds numbers (Re<1000), which is closely related to the capillary number Ca and the virtual length l0 of bubbles, and the criterions is also obtained. Most of bubbles in arc-shaped junction divergence of AFR are breakup with permanent obstruction (POB), which could be divided into two stages: squeezing stage and rapid pinch-off stage. The modified equation obtained in this paper can roughly describe the change of the bubble neck at the squeezing stage of POB. The research results provide a theoretical basis for industrial application of AFR and the development of next-generation reactors.

The droplet size distribution in liquid-liquid dispersions is a complex convolution of impeller speed, impeller type, fluid properties, and flow conditions. In this work, we present three a priori modeling approaches for predicting the droplet diameter distributions as a function of system operating conditions. In the first approach, called the two-fluid approach, we use high-resolution solutions to the Navier-Stokes equations to directly model the flow of each phase and the corresponding droplet breakup/coalescence events. In the second approach, based on an Eulerian-Lagrangian model, we describe the dispersed fluid as individual spheres undergoing ongoing breakup and coalescence events per user-defined interaction kernels. In the third approach, called the Eulerian-Parcel model, we model a sub-set of the droplets in the Eulerian-Lagrangian model to estimate the overall behavior of the entire droplet population. We discuss output from each model within the context of predictions from first principles turbulence theory and measured data.

High dimensional models typically require a large computational overhead for multiphysics applications, which hamper their use for broad-sweeping domain interrogation. Herein, we develop a modeling framework to capture the through-plane fluid dynamic response of electrodes and flow fields in a redox flow cell, generating a computationally inexpensive two-dimensional (2D) model. We leverage a depth averaging approach that also accounts for variations in out-of-plane fluid motion and departures from Darcy’s law that arise from averaging across three-dimensions (3D). Our Resulting depth-averaged 2D model successfully predict the fluid dynamic response of arbitrary in-plane flow field geometries, with discrepancies of < 5% for both maximum velocity and pressure drop. This corresponds to reduced computational expense, as compared to 3D representations (< 1% of duration and 10% of RAM usage), providing a platform to screen and optimize a diverse set of cell geometries.

Two-dimensional (2D) lamellar membranes are promising for efficient molecule transfer, while the underlying molecule transfer mechanism is rarely elucidated. Herein, heterostructured nanosheets are prepared by self-assembling small-sized hydrophilic cyanuric acid melamine (CMN) and hydrophobic g-C3N4 nanosheets. The resultant lamellar membranes show comparable affinity to both polar and nonpolar solvents, allowing them to dissolve on membrane surface and diffuse through membrane channels. Permeance results demonstrate that the transfer of polar solvents is controlled by dissolution and diffusion processes, while that of nonpolar solvents is governed by dissolution process. And the corresponding equations are established. Importantly, polar solvents are induced to form ordered arrangement in hydrophilic nanodomains and then maintain this state in hydrophobic nanodomains, affording low-resistance transfer thus high permeance: 1025 L m-2 h-1 bar-1 for acetonitrile. In contrast, nonpolar solvents with disordered arrangement acquire lower permeance than that of polar ones, but with comparable diffusion ability in these membranes.

Background: Aspergillus fumigatus and other fungal species are common pathogens isolated in CF patients and they lead to a variety of diseases like ABPA and invasive aspergillosis. Aims and Objectives: To study the prevalence of Aspergillus colonization, sensitization and ABPA in our cohort of CF patients. Also, to study the various risk factors for Aspergillus colonization and ABPA in these patients. Methodology: This was a observational study in which 30 patients of cystic fibrosis between 0 to 18 years were enrolled visiting a tertiary care hospital in north India during January 2019 till December 2020. Data was collected on pre-structured proforma on cough swab and sputum c/s for bacteria and fungus, skin prick test for Aspergillus fumigatus, total IgE, Aspergillus specific IgE, Aspergillus specific IgG, galactomannan and CXR. Prevalence of Aspergillus colonization, sensitization and ABPA was calculated, Odds ratio for all the postulated risk factors for Aspergillus colonization and ABPA were calculated and further Chi square test was applied to check association of ABPA with pulmonary exacerbation. Results: Patients enrolled were between the age group of 4 months till 18 years of age with the median age being 4.75 years (IQR: 2.25 -11.75). 16.67% (n=5), 36.67% (n=11) of the patients enrolled in our study were colonized and sensitized with Aspergillus fumigatus respectively. While, 23.34% (n=7) of the patients had ABPA. We found positive association of Aspergillus colonization with multiple risk factors under study, in the following order of decreasing odds ratio, inhaled antibiotics (OR: 4.75) followed by use of azithromycin (OR: 3.5), inhaled corticosteroids (OR: 2.6), and atopy (OR: 1.3). Conclusion: Aspergillus fumigatus is a common colonizer in patients of cystic fibrosis (16.67%), and can lead to an inflammatory response and ABPA (23.34%). Use of azithromycin, inhaled antibiotics, inhaled corticosteroids and atopy increases the chances of Aspergillus colonization.

Background: The ectopic pregnancy(EP) patients requires the closely monitor. However, there is no international consensus through which method to select EP patients from the pregnancy of unknown location (PUL) patients. Objective: To summarize and review the protocols of screening patients with EP when being diagnosed with PUL. Search strategy: We searched MEDLINE, web of science and Embase from inception to May 2020. All the articles were dual-reviewed based on predetermined selection criteria. Selection criteria: Studies exploring PUL outcomes can be included. Data collection and analysis: Prediction results, final diagnosis, and expense depending on patient’s visits and examination were analyzed by R. version 3.6.3 and Revman version 5.4. Results: 29 studies were included. M6 model had the areas under the curve(AUC) of 0.944, the progesterone cut-offs an AUC of 0.725, and the M4 model an AUC of 0.871 respectively. When the sum of visits and examinations of the protocols increased from 3 to 5, the rate of lost to follow-up patients increased from 11.19% to 18.63%. The average production utility of progesterone cut-offs is 0.242, the M4 is 0.174, and the M6 is 0.157. Conclusions: The M6 model had the best performance to predict EP among the PUL patients. The progesterone cut-offs is the most cost-effective method to predict the final outcome of EP. Fundings: Project supported by National Natural Science Foundation of China (82073323) and the Joint Funds of the National Natural Science Foundation of China (U20A20368). Keywords: ectopic pregnancy, pregnancy of unknown location, predictive protocol，hCG，progesterone.

We present a Bayesian approach for modeling a time series for a cumulative record that takes the form of the maximum or minimum of a sequence of attempts, in the absence of data for the underlying attempts. We discuss the derivation of the likelihood function, sampling of the posterior via PyMC3, and forecasting the distribution of future records.

This unusual case of massive hemothorax developed following snakebite envenomation resulted in massive drop in hemoglobin, from 13.2 to 3.1g/dL, in three-days, and severe respiratory distress that required a number of thoracocentesis. He was stable until day-two of admission, then fully-deteriorated on day-three which reflects the need for close observation.

Background: Pneumonia is one of the leading causes of mortality and morbidity worldwide. Microbiology tests play a critical role in the diagnosis of pneumonia. Our study aimed to determine microbiology result reporting times and evaluate its association with outcomes of adult patients (≥18 years) hospitalized with pneumonia. Methods: A 3-year (2016-2018) retrospective cohort study in six hospitals in New South Wales, Australia. Study data were obtained by linking hospital and laboratory system databases. Result reporting times including time from admission to the first and the last microbiology test results were determined. The outcome measures were hospital length of stay (LOS) and in-hospital mortality. We fit median and logistic regression to evaluate the association of time-to-first microbiological result with hospital LOS and in-hospital mortality respectively. Results: A total of 6,298 patients met the inclusion criteria. Of these, 85.3% (n=5,375) ordered at least one microbiology test. The top 5 microbiology tests were blood culture, urine culture, respiratory polymerase chain reaction (PCR), urine antigen and sputum culture. The median time-to-first microbiology result was 26 hrs while the median time-to last test result was 144 hrs. The rate of in-hospital mortality was 5.9% (n=371). After adjusting for confounders, every 5 hrs increase in the time to-first microbiology test was associated with an increase of 3.9 hrs in the median hospital LOS [95% Confidence Interval (CI), 3.5 to 4.3; P<0.001]. There was no association between time-to-first microbiology result and in-hospital mortality (OR 1.01; 95% CI 1.00-1.02; P=0.122). Conclusion: Time-to-first microbiology result reporting was significantly associated with hospital LOS but not with in-hospital mortality. Further research should be conducted to understand if improving result reporting times can reduce the length of hospital stay of patients. Key words: Microbiology diagnostics; Test result reporting; Pneumonia; Diagnostic informatics

Objective To investigate the effect of influenza vaccination on prevention of acute attack in elderly patients with chronic airway disease, and to provide evidence for the prevention and control strategy of chronic airway disease in elderly population. Methods Elderly patients in Linquan County of Anhui Province of China who under stationary phase of chronic airway disease were selected and randomly vaccinated with tetravalent or trivalent influenza vaccine. The number of patients with acute attack, the number of outpatients with acute attack, the number of outpatients, the number of inpatients, the number of inpatients, the total cost of patients, the cost of outpatients, the cost of hospitalization and the length of hospitalization were collected before vaccination and after one year follow up. Results A total of 348 subjects were included in this study, 248 were vaccinated with trivalent vaccination and 100 were vaccinated with tetravalent vaccination. There was no significant difference in age and sex ratio among two vaccination groups. The ratios of acute attack, outpatient visits and hospitalization, and number of outpatient visits, number of hospitalizations, total medical expenses, outpatient expenses and hospitalization expenses were significantly higher before vaccination than those after vaccination in both trivalent vaccination group and tetravalent vaccination group. While, there was no significant difference in the length of stay between before and after vaccination in neither trivalent vaccination group nor tetravalent vaccination group. The protection effect between trivalent vaccination group and tetravalent vaccination group was not significant. Conclusion Influenza vaccination can effectively prevent the acute attack of chronic airway disease and delay the progress of the chronic airway disease.

Purpose: Vestibuloocular reflex (VOR) may be helpful in the diagnosis of Benign Paroxysmal Positional Vertigo (BPPV). Video Head Impulse Test (vHIT) can effectively diagnose VOR deficits in vestibular disorders. Aims: The aim of this study is to investigate the significance of vHIT in determining the efficacy of therapeutic maneuvers in individuals with posterior semicircular canal BPPV. Materials and Methods: The study included 25 patients with posterior SCC BPPV (Study Group) between the ages of 19-65 years, 30 healthy individuals (Control Group). All individuals underwent otorhinolaryngologic examination, audiological evaluation with, videonystagmography and vHIT. The Dizziness Handicap Inventory (DHI) and Visual Analogue Scale (VAS) were administered to the individuals with posterior SCC BPPV for the intensity of dizziness and Modified Epley maneuver was performed 3 times at an interval of 3 days. The vHIT, DHI and VAS were re-administered to these individuals 1 week after improvement was detected in positional nystagmus. Results: There was no significant difference between the study and control groups in terms of vHIT gains for all bilateral SCCs before therapeutic maneuver (p>0.05). In the study group, there was no significant difference between vHIT gains of all bilateral SSCs before and after therapeutic maneuvers (p>0.05). No asymmetry or refixation saccades (overt and covert) were observed in any of the individuals in both groups during all measurements. Compared to before therapeutic maneuvers, there was a significant decrease in dizziness-related disability level assessed by DHI and intensity of dizziness assessed by VAS in the study group after the improvement (p<0.001). Conclusion: It was found that vHIT was not a diagnostic test in BPPV and in terms of evaluating the efficacy of therapeutic maneuvers. Subjective evaluations determining the intensity of dizziness and level of dizziness-related disability in BPPV provided supportive information in diagnosis and in determining the efficacy of therapeutic maneuvers.

Purpose: The aim of this study was to evaluate the diagnostic accuracy of 18-fluorodeoxyglucose-positron emission tomography (18F-FDG-PET) and positron emission tomography/computed tomography (PET/CT) in imaging primary and metastatic lesions in Ewing sarcoma (ES). Methods: PubMed, Cochrane, Scopus, and Web of Science were searched for relevant studies. Data concerning 18F-FDG-PET/CT diagnostic accuracy were extracted and then analysed using Open Meta-analyst software. Reported diagnostic accuracy outcomes included sensitivity, specificity, negative likelihood ratio (NLR), positive likelihood ratio (PLR), and diagnostic odds ratio. Results: 31 studies with a total of 735 patients were included in this meta-analysis. The sensitivity and specificity of 18F-FDG PET/CT were: 92.6% and 74.1% for total ES lesions, 96.7% and 68.3% for ES primary lesions, 76.1% and 92.4% for lung metastasis, 83.9% and 93.2% for bone metastasis and 89.9% and 92.6% for ES recurrence respectively. Conclusion: 18F-FDG PET/CT is sensitive and accurate in diagnosing, staging, and detecting the recurrence of ES compared to non-PET imaging. It has high specificity for diagnosing recurrence of ES as well as lung and bone metastases.

Background: Primary immunodeficiency diseases (PIDs) comprise more than 400 rare diseases with potential life-threatening conditions. Clinical manifestations and genetic defects are heterogeneous and diverse among populations. Here, we aimed to characterize the clinical, immunological and genetic features of Thai pediatric patients with PIDs. The use of whole exome sequencing (WES) in diagnosis and clinical decision making was also assessed. Methods: 36 unrelated patients with clinical and laboratory findings consistent with PIDs were recruited from January 2010 to December 2020. WES was performed to identify the underlying genetic defects. Results: The median age of disease onset was 4 months (range; 1 month to 13 years) and 24 were male (66.7%). Recurrent sinopulmonary tract infection was the most common clinical presentation followed by septicemia, and severe pneumonia. Using WES, we successfully identified the underlying genetic defects in 18 patients (50%). Of the 20 variants identified, six have not been previously described (30%). According to the International Union of Immunological Societies (IUIS), 38.9% of these detected cases (7/18) were found to harbor variants associated with genes in combined immunodeficiencies with associated or syndromic features (Class II). Conclusion: The diagnostic yield of WES in this patient cohort was 50%. Six novel genetic variants in PID genes were identified. The clinical usefulness of WES in PIDs was demonstrated, emphasizing it as an effective diagnostic strategy in these genetically heterogeneous disorders.