The use of the CT90 value in predicting anxiety in OSA: could it be a useful parameter?

OBJECTIVE: Obstructive sleep apnea (OSA) is characterized by recurrent episodes of complete or partial obstruction of the upper airway leading to episodic desaturation. OSA patients often show symptoms of anxiety. Our study aimed to examine the presence and levels of anxiety in OSA and simple snoring relative to control subjects and to investigate the correlation between anxiety scores and polysomnographic, demographic, and sleepiness parameters. SUBJECTS AND METHODS: The study included 80 OSA, 30 simple snoring, and 98 control cases. Demographic, anxiety, and sleepiness data of all subjects were acquired. The Beck Anxiety Inventory (BAI) was used to determine the level of anxiety. The Epworth Sleepiness Scale (ESS) was used to evaluate the sleepiness level of participants. In addition, polysomnography recordings of those in the OSA and the simple snoring group were acquired. RESULTS: Significantly higher anxiety scores were found in patients with obstructive sleep apnea and simple snoring compared to the control group (p<0.01, p<0.01, respectively). From the polysomnographic data obtained from OSA and simple snoring subjects, the CT90 values (cumulative percentage of the time spent at saturations below 90%) and the AHI showed a weak positive correlation between the level of anxiety (p=0.004, r=0.271; p=0.04, r=0.196, respectively). CONCLUSIONS: Our study concluded that polysomnographic data showing the depth and duration of hypoxia may be more reliable in showing neuropsychological disorder and hypoxia-related comorbidities in OSA. The CT90 value can be used as a measure in the assessment of anxiety in OSA. Its advantage is that it can be measured with overnight pulse oximetry along with in-laboratory PSG and HSAT (home sleep apnea test).

COVID-19: booster(s) vs. hospitalization and Intensive Care Unit admission.

OBJECTIVE: As the pandemic continues, different vaccine protocols have been implemented to maintain the protection of vaccines and to provide protection against new variants. The aim of this study was to assess hospitalized patients' vaccination status and document the efficacy of boosters. PATIENTS AND METHODS: The patients that were hospitalized due to COVID-19 were enrolled from 28 hospitals in Turkey for five months from September 2021. 5,331 confirmed COVID-19 patients from collaborating centers were randomly enrolled to understand/estimate the distribution of vaccination status in hospitalized patients and to compare the efficacy of vaccination/booster protocols. RESULTS: 2,779 men and 2,552 women of which 2,408 (45.2%) were admitted to Intensive Care Units participated in this study. It was found that the highest risk reduction for all age groups was found in groups that received 4 doses. Four doses of vaccination for every 3.7 people under 50 years of age, for every 5.7 people in the 50-64 age group, and for every 4.3 people over 65 years of age will prevent 1 patient from being admitted to intensive care. Regardless of the type of vaccine, it was found that the risk of ICU hospitalization decreased in those who were vaccinated compared to those who were not vaccinated. Regardless of the type of vaccine, the ICU risk was found to decrease 1.25-fold in those who received 1 or 2 doses of vaccine, 1.18-fold in those who received 3 doses, and 3.26-fold in those who received 4 doses. CONCLUSIONS: The results suggested that the addition of a fourth dose is more effective in preventing intensive unit care even in disadvantaged groups.

Phthalocyanine complexes with (4-isopropylbenzyl)oxy substituents: preparation and evaluation of anti-carbonic anhydrase, anticholinesterase enzymes and molecular docking studies.

In this study, the preparation, aggregation behavior and investigation of carbonic anhydrase and cholinesterase enzyme inhibition features of non-peripherally (4-isopropylbenzyl)oxy-substituted phthalocyanines (4-6) are reported for the first time. The chemical structures of these new phthalocyanines were elucidated by UV-Vis (ultraviolet-visible), FT-IR (Fourier transform infrared spectrometry), NMR (nuclear magnetic resonance) and MALDI-TOF (matrix-assisted laser desorption/ionization time-of-flight) mass spectrometry. The substitution of 4-isopropylbenzyl)oxy groups benefits a remarkable solubility and redshift of the phthalocyanines Q-band. Also, these complexes were tested against some enzymes such as butyrylcholinesterase enzyme, human carbonic anhydrase I and II isoforms and acetylcholinesterase enzyme. The phthalocyanine complexes showed Ki values of in the range of 478.13 ± 57.25-887.25 ± 101.20 µM against hCA I, 525.16 ± 45.87-921.14 ± 81.25 µM against hCA II, 68.33 ± 9.13-201.15 ± 35.86 µM against AChE and 86.25 ± 13.65-237.54 ± 24.7 µM against BChE. Molecular docking studies were performed to investigate the binding modes and interaction energies of the (2-6) complexes with the hCA I (PDB ID:1BMZ), hCA II (PDB ID:2ABE), AChE (PDB ID:4EY6) and BChE (PDB ID:2PM8).

Comprehensive comparison between 222 CTLA-4 haploinsufficiency and 212 LRBA deficiency patients: a systematic review.

Cytotoxic T lymphocyte antigen 4 (CTLA-4) haploinsufficiency (CHAI) and lipopolysaccharide-responsive beige-like anchor (LRBA) deficiency (LATAIE) are newly identified inborn errors of immunity with shared molecular pathomechanisms and clinical manifestations. In this review, we aimed to provide differential comparisons regarding demographic, clinical, immunological and molecular characteristics between these two similar conditions. A literature search was conducted in PubMed, Web of Science and Scopus databases and included studies were systematically evaluated. Overall, 434 (222 CHAI and 212 LATAIE) patients were found in 101 eligible studies. The CHAI patients were mainly reported from North America and western Europe, while LATAIE patients were predominantly from Asian countries. In CHAI, positive familial history (P < 0·001) and in LATAIE, consanguineous parents (P < 0·001) were more common. In CHAI patients the rates of granulomas (P < 0·001), malignancies (P = 0·001), atopy (P = 0·001), cutaneous disorders (P < 0·001) and neurological (P = 0·002) disorders were higher, while LATAIE patients were more commonly complicated with life-threatening infections (P = 0·002), pneumonia (P = 0·006), ear, nose and throat disorders (P < 0·001), organomegaly (P = 0·023), autoimmune enteropathy (P = 0·038) and growth failure (P < 0·001). Normal lymphocyte subsets and immunoglobulins except low serum levels of CD9+ B cells (14·0 versus 38·4%, P < 0·001), natural killer (NK) cells (21 versus 41·1%, P < 0·001), immunoglobulin (Ig)G (46·9 versus 41·1%, P = 0·291) and IgA (54·5 versus 44·7%, P = 0·076) were found in the majority of CHAI and LATAIE patients, respectively. The most frequent biological immunosuppressive agents prescribed for CHAI and LATAIE patients were rituximab and abatacept, respectively. Further investigations into the best conditioning and treatment regimens pre- and post-transplantation are required to improve the survival rate of transplanted CHAI and LATAIE patients.

The Effect of Continuous Positive Airway Pressure on Basal Metabolism Rate in Patients with Severe Obstructive Sleep Apnoea Syndrome

ABSTRACT Objective: To assess the effect of the continuous positive airway pressure (CPAP) treatment on basal metabolism rate (BMR) in patients with severe obstructive sleep apnoea syndrome (OSAS). Methods: Demographic characteristics, body mass index (BMI), apnoea-hypopnoea index (AHI) and smoking history of the patients were recorded. Basal metabolism rate was measured via indirect calorimetry in the morning following nights of polysomnography and CPAP titration. Basal metabolism rate, oxygen consumption (VO2) and carbon dioxide output (VCO2) levels were compared before and after CPAP administration. Results: A total of 25 patients with a mean age of 51.4 ± 13.7 years were included in the study: 6 (24%) female and 19 (76%) male. A significant reduction in the BMR (p = 0.049), VO2 (p = 0.042) and VCO2 (p = 0.008) values were observed after a single night administration of CPAP as compared to before treatment. Furthermore, it was detected that this reduction provided by CPAP treatment was more significant in current smokers, patients with AHI > 60 and BMI ≥ 30. Conclusion: It is suggested that there is a correlation between BMR and the severity of OSAS, and it is possible to provide a significant reduction in BMR with single night administration of CPAP depending on the patient's smoking history, degree of obesity and disease severity.

Malignancy and Pulmonary Thromboembolism: Comparison of Symptomatic Cases with the Incidental Ones

ABSTRACT Objective: The use of advanced techniques of computed tomography (CT) has resulted in increased incidentally detected pulmonary embolism in oncology patients undergoing routine cancer staging CT scans. The aim of this study was to compare the symptomatic and incidental pulmonary emboli cases in oncologic patients. Methods: The medical data of the patients diagnosed with pulmonary embolism (ICD: I.26) and had an underlying malignancy were evaluated retrospectively from their hospital records between the years of 2009 and 2013. The results of their right ventricle dilatations were evaluated from the thorax CT. Results: There were 38 women (44.2%) and 48 men (55.8%), totalling 86 patients. Their mean age was 61.7 ± 11.9 years and the median duration of their follow-up was 6 months. Their most common underlying malignancies were gastrointestinal (29.4%), lung (22.4%), genitourinary (21.2%) and breast cancers (10.6%). Their pulmonary thromboembolism was diagnosed incidentally on routine control thorax CT in 39 of the cases (45.3%). When the incidental cases were compared with the symptomatic ones, no statistically significant difference was found with respect to the type of malignancy, history of chemotherapy, the presence of metastasis and evidence of septum flattening on the thorax CT. The presence of bilateral thrombus was found to be increased in the symptomatic cases compared with the incidental ones and the difference was statistically significant (p = 0.026). It was found that the right ventricle/left ventricle ratio was significantly higher in symptomatic cases (p = 0.03) than in the incidental ones. Conclusion: A considerable number of pulmonary thromboemboli episodes could be asymptomatic in malignant patients. It is suggested that the submassive clinical course and preserved right ventricle functions could be the reason for the asymptomatic events.

Aminopyrazole-substituted metallophthalocyanines: Preparation, aggregation behavior, and investigation of metabolic enzymes inhibition properties.

The synthesis, characterization, aggregation behavior, theoretical studies, and investigation of antimicrobial, antidiabetic, and anticholinergic properties of 4-(2-(5-amino-4-(4-bromophenyl)-3-methyl-1H-pyrazol-1-yl)ethoxy)phthalonitrile (2) and its soluble aminopyrazole-substituted peripheral metallo (Mn, Co, and Ni)-phthalocyanine complexes (3-5) are reported for the first time. The synthesized compounds and phthalocyanine complexes were characterized spectroscopically. The new phthalonitrile derivative (2) and its peripheral metallophthalocyanine complexes (3-5) were found to be effective inhibitors of α-glycosidase, acetylcholinesterase (AChE), human carbonic anhydrase I and II isoforms (hCA I and II), and butyrylcholinesterase (BChE) with Ki values in the range of 1.55 ± 0.47 to 10.85 ± 3.43 nM for α-glycosidase, 8.44 ± 0.32 to 21.31 ± 7.91 nM for hCA I, 11.73 ± 2.82 to 31.03 ± 4.81 nM for hCA II, 101.62 ± 26.58 to 326.54 ± 89.67 nM for AChE, and 68.68 ± 11.15 to 109.53 ± 19.55 nM for BChE. This is the first study of peripherally substituted phthalocyanines containing an aminopyrazole group as potential carbonic anhydrase enzyme inhibitor. Also, the antimicrobial activities of the synthesized compounds were evaluated against six microorganisms (four bacteria and two Candida species) using the broth microdilution method. The gram-positive bacteria were detected to be more sensitive than gram-negative bacteria and yeasts in the synthesized compounds.

Expanding the mutation spectrum in ICF syndrome: Evidence for a gender bias in ICF2.

BACKGROUND: Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is a rare, genetically heterogeneous, autosomal recessive disorder. Patients suffer from recurrent infections caused by reduced levels or absence of serum immunoglobulins. Genetically, 4 subtypes of ICF syndrome have been identified to date: ICF1 (DNMT3B mutations), ICF2 (ZBTB24 mutations), ICF3 (CDCA7 mutations), and ICF4 (HELLS mutations). AIM: To study the mutation spectrum in ICF syndrome. MATERIALS AND METHODS: Genetic studies were performed in peripheral blood lymphocyte DNA from suspected ICF patients and family members. RESULTS: We describe 7 ICF1 patients and 6 novel missense mutations in DNMT3B, affecting highly conserved residues in the catalytic domain. We also describe 5 new ICF2 patients, one of them carrying a homozygous deletion of the complete ZBTB24 locus. In a meta-analysis of all published ICF cases, we observed a gender bias in ICF2 with 79% male patients. DISCUSSION: The biallelic deletion of ZBTB24 provides strong support for the hypothesis that most ICF2 patients suffer from a ZBTB24 loss of function mechanism and confirms that complete absence of ZBTB24 is compatible with human life. This is in contrast to the observed early embryonic lethality in mice lacking functional Zbtb24. The observed gender bias seems to be restricted to ICF2 as it is not observed in the ICF1 cohort. CONCLUSION: Our study expands the mutation spectrum in ICF syndrome and supports that DNMT3B and ZBTB24 are the most common disease genes.

Assessment of Palliative Care in Lung Cancer in Turkey.

OBJECTIVE: To investigate the symptoms of lung cancer in Turkey and to evaluate approaches to alleviate these symptoms. SUBJECTS AND METHODS: This study included 1,245 lung cancer patients from 26 centers in Turkey. Demographic characteristics as well as information regarding the disease and treatments were obtained from medical records and patient interviews. Symptoms were evaluated using the Edmonton Symptom Assessment Scale (ESAS) and were graded on a scale between 0 and 10 points. Data were compared using the χ2, Student t, and Mann-Whitney U tests. Potential predictors of symptoms were analyzed using logistic regression analysis. RESULTS: The most common symptom was tiredness (n = 1,002; 82.1%), followed by dyspnea (n = 845; 69.3%), appetite loss (n = 801; 65.7%), pain (n = 798; 65.4%), drowsiness (n = 742; 60.8%), anxiety (n = 704; 57.7%), depression (n = 623; 51.1%), and nausea (n = 557; 45.5%). Of the 1,245 patients, 590 (48.4%) had difficulty in initiating or maintaining sleep. The symptoms were more severe in stages III and IV. Logistic regression analysis indicated a clear association between demographic characteristics and symptom distress, as well as between symptom distress (except nausea) and well-being. Overall, 804 (65.4%) patients used analgesics, 630 (51.5%) received treatment for dyspnea, 242 (19.8%) used enteral/parenteral nutrition, 132 (10.8%) used appetite stimulants, and 129 (10.6%) used anxiolytics/antidepressants. Of the 799 patients who received analgesics, 173 (21.7%) reported that their symptoms were under control, and also those on other various treatment modalities (dyspnea: 78/627 [12.4%], appetite stimulant: 25/132 [18.9%], and anxiolytics/antidepressants: 25/129 [19.4%]) reported that their symptoms were controlled. CONCLUSION: In this study, the symptoms progressed and became more severe in the advanced stages of lung cancer, and palliative treatment was insufficient in most of the patients in Turkey.

The effects of sildenafil on smoke induced lung inflammation in rats.

OBJECTIVE: Sildenafil is a selective and potent inhibitor of cyclic guanosine monophosphate specific phosphodiesterase-5 and has anti-inflammatory effects. The aim of the study was to evaluate the effects of sildenafil on smoke-induced lung inflammation. MATERIAL AND METHODS: Twenty-nine Wistar-Albino rats were enrolled into 3 groups as control, smoker and sildenafil groups. Smoker and sildenafil groups were exposed to cigarette smoke for 2 hours per day for 8 weeks. Sildenafil 10 mg/kg/day was administered to the sildenafil group by nasogastric lavage after smoke exposure. The degree of lung inflammation was scored histopathologically for each group. RESULTS: The inflammation score was 7.25±0.93 in the control group, 8.18±1.21 in the smoker group and 7.08±1.66 in the sildenafil group. There was a non-significant decrease of inflammation score in sildenafil group with respect to control or smoker groups. While there was no significant difference of oedema, hyperemia, hemorrhage and mononuclear cell infiltration scores among the groups, it was found that the thickness of interalveolar septum and alveolar distortion was decreased in sildenafil group. However this decrease was not statistically significant. CONCLUSION: This study suggests that sildenafil might reduce smoke-induced inflammation in rat lungs. Future studies are needed in order to investigate the clinical effectiveness of this finding in smoking related lung diseases.

The effects of sildenafil on smoke induced lung inflammation in rats

Objective: Sildenafil is a selective and potent inhibitor of cyclic guanosine monophosphate specific phosphodiesterase-5 and has anti-inflammatory effects. The aim of the study was to evaluate the effects of sildenafil on smoke-induced lung inflammation. Material and Methods: Twenty-nine Wistar-Albino rats were enrolled into 3 groups as control, smoker and sildenafil groups. Smoker and sildenafil groups were exposed to cigarette smoke for 2 hours per day for 8 weeks. Sildenafil 10 mg/kg/day was administered to the sildenafil group by nasogastric lavage after smoke exposure. The degree of lung inflammation was scored histopathologically for each group. Results: The inflammation score was 7.25±0.93 in the control group, 8.18±1.21 in the smoker group and 7.08±1.66 in the sildenafil group. There was a non-significant decrease of inflammation score in sildenafil group with respect to control or smoker groups. While there was no significant difference of oedema, hyperemia, hemorrhage and mononuclear cell infiltration scores among the groups, it was found that the thickness of interalveolar septum and alveolar distortion was decreased in sildenafil group. However this decrease was not statistically significant. Conclusion: This study suggests that sildenafil might reduce smoke-induced inflammation in rat lungs. Future studies are needed in order to investigate the clinical effectiveness of this finding in smoking related lung diseases.

JAGN1 Deficient Severe Congenital Neutropenia: Two Cases from the Same Family.

Recently autosomal recessively inherited mutations in the gene encoding Jagunal homolog 1 (JAGN1) was described as a novel disease-causing gene of severe congenital neutropenia (SCN) JAGN1-mutant neutrophils were characterized by abnormality in endoplasmic reticulum structure, absence of granules, abnormal N-glycosylation of proteins and susceptibility to apoptosis. These findings imply the role of JAGN1 in neutrophil survival. Here, we report two siblings with a homozygous mutation in JAGN1 gene, exhibiting multisystemic involvement.

Role of smoke-free legislation on emergency department admissions for smoking-related diseases in Kocaeli, Turkey.

Legislation banning smoking in all indoor public places was introduced in Turkey in July 2009. The aim of this study was to evaluate the role of smoke-free legislation on the number of emergency department admissions for smoking-related diseases in Kocaeli city. A retrospective analysis was made of hospital records from the first 6 months of 2009 and 2010 (before and after legislation). Total admissions for smoking-related diseases were 83 089 in 2009 and 64 314 in 2010, a 22.6% decrease. Time-series analysis showed that the decreases were significant for bronchitis and lower respiratory tract infections. Emergency admissions for chronic obstructive pulmonary disease, myocardial infarction and allergic rhinitis were lower but not significantly so. The number of patients admitted with asthma showed a non-significant increase. Smoke-free legislation might have important short-term effects on emergency department admissions, but further studies are needed in order to evaluate the long-term effects of legislation on smoking-related diseases.

Lower recurrence rate with full-thickness mesh fixation in incisional hernia repair.

PURPOSE: To share the lower recurrence rate achieved during long-term follow-up by repairing incisional hernias (IHs) with full-thickness fixation of onlay mesh. METHODS: We retrospectively analyzed 196 IH cases operated on by the same surgeon between 2002 and 2013. After exclusions (unrelated death, lack of follow-up), 154 cases were included. Abdominal examination findings, recurrence dates (if accessible), and imaging results were obtained from computer records and evaluated. Intraoperatively, all hernial sac adhesions were separated to reveal the anterior abdominal wall, and full-thickness suspension sutures were placed 6-8 cm lateral to the fascial edge at 2-cm intervals, excluding the peritoneum. The primary fasciae were closed, suspension sutures were passed through the mesh holes, and the mesh was fixed as an onlay, leaving no space between the fasciae. RESULTS: In total, 154 subjects with IHs were analyzed: 107 (69.5%) females and 47 (30.5%) males. The mean patient age was 52.60 years [standard deviation (SD) 11.24 years], and the mean fascial defect diameter was 77 cm(2). The average operation time was 128 min (SD 42.5 min), and the average patient follow-up time was 54 months (SD 22.8 months). Eight (5.2%) patients developed recurrences after full-thickness mesh fixation, and ten subjects (6.5%) had persistent pain in the operative area for longer than 3 months. CONCLUSIONS: Full-thickness mesh fixation mechanically supports the fascia, especially in the early postoperative period, and enables homogeneous fibrous healing in a wide area, preventing mesh migration; we believe that these attributes are crucial in reducing the IH recurrence rate.

Long-Term Effect of Sublingual and Subcutaneous Immunotherapy in Dust Mite-Allergic Children With Asthma/Rhinitis: A 3-Year Prospective Randomized Controlled Trial.

BACKGROUND AND OBJECTIVE: Specific allergen immunotherapy is the only treatment modality that might change the natural course of allergic diseases in childhood. We sought to prospectively compare the long-term clinical and immunological effects of sublingual (SLIT) and subcutaneous (SCIT) immunotherapy compared with pharmacotherapy alone. METHODS: In this single-center, prospective randomized controlled trial, 48 children with mild persistent asthma with/without rhinitis, monosensitized to house dust mites (HDMs) were followed for 3 years. At baseline and years 1 and 3 of follow-up, patients were evaluated and compared for total rhinitis (TRSS) and asthma (TASS) symptom scores, total symptom scores (TSS), total medication scores (TMS), safety profiles, skin-nasal-bronchial reactivity, and immunological parameters. RESULTS: A significant reduction was observed in TASS for both HDM-SCIT and HDM-SLIT at year 3 of treatment compared with baseline and controls (P<.05 for both), with significant improvement in rhinitis symptoms for both groups compared with controls (P=.01 for both). TSS decreased significantly in both HDM-SCIT and HDM-SLIT at year 3 compared with baseline (P=.007 and P=.04, respectively) and controls (P<.01 for both). A significant reduction in TMS was observed in HDM-SCIT and HDM-SLIT compared with baseline and controls (P=.01 in all cases), with a reduction in skin reactivity to HDM (P<.05). Finally, a significant increase in allergen specific IgG4 was observed in the SCIT group at year 3 compared with baseline, the SLIT group, and controls (P<.001 in all cases). CONCLUSIONS: HDM-sensitized asthmatic children treated for at least 3 years with either SCIT or SLIT showed sustained clinical improvement.

Long-term effect of sublingual and subcutaneous immunotherapy in dust mite–allergic children with asthma/rhinitis: a 3-year prospective randomized controlled trial

Background and Objective: Specific allergen immunotherapy is the only treatment modality that might change the natural course of allergic diseases in childhood. We sought to prospectively compare the long-term clinical and immunological effects of sublingual (SLIT) and subcutaneous (SCIT) immunotherapy compared with pharmacotherapy alone. Methods: In this single-center, prospective randomized controlled trial, 48 children with mild persistent asthma with/without rhinitis, monosensitized to house dust mites (HDMs) were followed for 3 years. At baseline and years 1 and 3 of follow-up, patients were evaluated and compared for total rhinitis (TRSS) and asthma (TASS) symptom scores, total symptom scores (TSS), total medication scores (TMS), safety profiles, skin-nasal-bronchial reactivity, and immunological parameters. Results: A significant reduction was observed in TASS for both HDM-SCIT and HDM-SLIT at year 3 of treatment compared with baseline and controls (P<.05 for both), with significant improvement in rhinitis symptoms for both groups compared with controls (P=.01 for both). TSS decreased significantly in both HDM-SCIT and HDM-SLIT at year 3 compared with baseline (P=.007 and P=.04, respectively) and controls (P<.01 for both). A significant reduction in TMS was observed in HDM-SCIT and HDM-SLIT compared with baseline and controls (P=.01 in all cases), with a reduction in skin reactivity to HDM (P<.05). Finally, a significant increase in allergen specific IgG4 was observed in the SCIT group at year 3 compared with baseline, the SLIT group, and controls (P<.001 in all cases). Conclusions: HDM-sensitized asthmatic children treated for at least 3 years with either SCIT or SLIT showed sustained clinical improvement (AU)

Antecedentes: La inmunoterapia con alérgenos es el único tratamiento que podría cambiar el curso natural evolutivo de las enfermedades alérgicas en la infancia. Nuestro objetivo era comparar, de manera prospectiva, la eficacia a largo plazo de la inmunoterapia sublingual (SLIT) y subcutánea (SCIT), con el tratamiento exclusivo con farmacoterapia convencional. Métodos:En este ensayo clínico, prospectivo de tres años de duración, realizado en un solo centro y aleatorizado, se incluyeron 48 niños con asma leve persistente, con o sin rinitis asociada, monosensibilizados a los ácaros del polvo (HDM). Los pacientes fueron evaluados al inicio, al año y a los tres años de tratamiento, comparándose los cambios en la puntuación de síntomas nasales (TRSS), bronquiales (TASS), puntuación total de síntomas (TSS) y consumo de medicación (TMS), perfil de seguridad, reactividad frente al alérgeno cutánea, nasal y bronquial y diversos parámetros inmunológicos. Resultados: Se observó una reducción significativa del TASS tanto para el grupo HDM-SCIT como HDM-SLIT al final del tercer año de tratamiento, tanto cuando se comparaba con la situación basal como con los cambios observados en el grupo control (p<0.05, respectivamente). El TRSS también mejoró significativamente en ambos grupos HDM-SCIT y HDM-SLIT en el tercer año de tratamiento, cuando los cambios se compararon con los observados en el grupo control (p=0,01, en ambos). El TSS y el TMS disminuyeron también significativamente en ambos grupos HDM-SCIT y HDM-SLIT en el tercer año, comparado con la situación basal (p=0,007, p=0,04/ p=0,01, p=0,01 respectivamente) y con el grupo control (p<0,01,p<0,01/ p=0,01, p=0,01, respectivamente). Tras tres años de tratamiento la reactividad cutánea frente a los alérgenos de los ácaros disminuyó significativamente (p<0,05). Los niveles de IgG4 específica frente a ácaros se incrementaron en el grupo SCIT-HDM, comparados con la situación basal y con los cambios observados en el grupo SLIT-HDM y control (p<0,001, respectivamente). Conclusiones: El tratamiento durante tres años con inmunoterapia específica tanto SCIT como SLIT se acompañó de una eficacia clínica sostenida, en este grupo de niños asmáticos sensibilizados a los ácaros del polvo. Ambas rutas de administración de la inmunoterapia parecen tener mecanismos de acción similares (AU)

A case of fever of unknown origin: necrotizing sarcoid granulomatosis.

Necrotizing sarcoid granulomatosis is a rare type of vasculitis; its etiology and pathogenesis are still unknown. The disease primarily affects the lungs, although extra-pulmonary involvement has been reported. The typical symptoms are cough, chest pain, dyspnea, and weight loss; high temperatures have been reported in rare cases. We present the case of a 65-year-old woman who was diagnosed with lymph node tuberculosis, for which she received treatment for six months. The patient experienced no improvement in her symptoms, which included fever, weakness and dyspnea. A re-evaluation of previously collected thoracoscopic biopsy material revealed compatibility with necrotizing sarcoid granulomatosis.

Alteration in humoral immunity is common among family members of patients with common variable immunodeficiency.

BACKGROUND: The prevalence of primary immunodeficiency (PID) in the relatives of patients with common variable immunodeficiency (CVID) and IgA deficiency is high. Allergic disorders have been recorded in patients with humoral immunodeficiency. We aimed to determine the frequency of humoral immunodeficiency and atopy in the relatives of patients with CVID. METHODS: The study population comprised 20 CVID patients and their relatives. All relatives were screened using a questionnaire covering demographic characteristics, warning signs of PID (adults and children), and core questions on asthma, rhinitis, and eczema from the International Study of Asthma and Allergies in Childhood (ISAAC). We also recorded absolute neutrophil and lymphocyte counts, serum immunoglobulin levels, pulmonary function values, and skin prick test results. RESULTS: The study sample comprised 20 patients with CVID (15 males, 5 females; mean (SD] age, 16.4 (9] years) and 63 first-degree relatives (18 mothers, 16 fathers, 16 sisters, 10 brothers, and 3 offspring). The rate of parental consanguinity was 75%. Of 17 family members with positive PID warning signs, 6 had concomitant hypogammaglobulinemia (3 low IgM levels, 2 selective IgA deficiency, and 1 partial IgA deficiency). The ISAAC questionnaire revealed allergic rhinitis in 3 mothers, asthma in 2 fathers, and 1 sibling. Skin prick testing revealed sensitization to aeroallergens in 31.6% of cases in addition to 1 parent and 1 sibling. CONCLUSIONS: Almost half of the 20 families with a CVID patient had at least 1 additional member with hypogammaglobulinemia, leading us to recommend routine screening for relatives of CVID patients.

Alteration in humoral immunity is common among family members of patients with common variable immunodeficiency

Background: The prevalence of primary immunodeficiency (PID) in the relatives of patients with common variable immunodeficiency (CVID) and IgA deficiency is high. Allergic disorders have been recorded in patients with humoral immunodeficiency. We aimed to determine the frequency of humoral immunodeficiency and atopy in the relatives of patients with CVID. Methods: The study population comprised 20 CVID patients and their relatives. All relatives were screened using a questionnaire covering demographic characteristics, warning signs of PID (adults and children), and core questions on asthma, rhinitis, and eczema from the International Study of Asthma and Allergies in Childhood (ISAAC). We also recorded absolute neutrophil and lymphocyte counts, serum immunoglobulin levels, pulmonary function values, and skin prick test results. Results: The study sample comprised 20 patients with CVID (15 males, 5 females; mean [SD] age, 16.4 [9] years) and 63 first-degree relatives (18 mothers, 16 fathers, 16 sisters, 10 brothers, and 3 offspring). The rate of parental consanguinity was 75%. Of 17 family members with positive PID warning signs, 6 had concomitant hypogammaglobulinemia (3 low IgM levels, 2 selective IgA deficiency, and 1 partial IgA deficiency). The ISAAC questionnaire revealed allergic rhinitis in 3 mothers, asthma in 2 fathers, and 1 sibling. Skin prick testing revealed sensitization to aeroallergens in 31.6% of cases in addition to 1 parent and 1 sibling. Conclusions: Almost half of the 20 families with a CVID patient had at least 1 additional member with hypogammaglobulinemia, leading us to recommend routine screening for relatives of CVID patients (AU)

Antecedentes: Es conocida la alta prevalencia de inmunodeficiencias entre los familiares de pacientes con inmunodeficiencia común variable (IDCV) y con déficit de IgA. Por otro lado, también se han descrito enfermedades alérgicas en pacientes con inmunodeficiencias humorales. El objetivo de este estudio ha sido el determinar la frecuencia de inmunodeficiencias humorales y de atopia entre los familiares de pacientes con IDCV. Métodos: Se estudiaron familiares de pacientes con IDCV. Todos los miembros de la familias fueron seleccionadas por un cuestionario que incluyó la determinación de las características demográficas, las señales de alarma, en adultos y niños, de padecer inmunodeficiencias primarias (IDP) y preguntas del Estudio Internacional de Asma y Alergia en la Infancia (ISAAC) para el asma, la rinitis y el eczema. Además, se realizaron estudios analíticos sobre el contaje de neutrófilos y linfocitos, los niveles de inmunoglobulinas séricas, la función pulmonar y pruebas cutáneas prick. Resultados: Se determinaron veinte casos de IDCV (15M, 5F, edad media: 16,4 ± 9 años) y se estudiaron un total de 63 parientes de primer grado (18 madres, 16 padres, 16 hermanas, 10 hermanos y 3 descendientes). La tasa de consanguinidad de los padres fue de 75%. En general, entre los 17 miembros de la familia con señales de alarma de padecer IDP, 6 tenían hipogammaglobulinemia concomitante; 3 bajos niveles de IgM, 2 selectivos y 1 con parcial déficit de IgA. El cuestionario ISAAC reveló rinitis alérgica en 3/18 de las madres; mientras que, el asma, en 2/18, de padres y de 1/26 de los hermanos. Finalmente, en las pruebas de punción cutánea se obtuvo una sensibilización a aeroalérgenos en el 31,6% de los casos, pero en ninguno de sus padres, hermanos o descendientes. Conclusiones: En 20 familias de pacientes con IDCV, casi la mitad de sus miembros tenían al menos un individuo con hipogammaglobulinemia, por lo que recomendamos una exploración rutinaria entre todos los familiares de pacientes con IDCV(AU)