Whitleyhutchinson5192

Propionate inborn errors of metabolism (PIEM), including propionic (PA) and methylmalonic (MMA) acidemias, are inherited metabolic diseases characterized by toxic accumulation of propionic, 3-hydroxypropionic, methylcitric, and methylmalonic organic acids in biological fluids, causing recurrent acute metabolic acidosis events and encephalopathy, which can lead to fatal outcomes if managed inadequately. PIEM patients can develop hematological abnormalities and immunodeficiency, either as part of the initial clinical presentation or as chronic complications. The origin and characteristics of these abnormalities have been studied poorly. Thus, the aim of the present work was to evaluate and describe lymphoid, myeloid, and erythroid cell population profiles in a group of clinically stable PIEM patients.

This was a retrospective study of 11 nonrelated Mexican PIEM patients. Clinical, biochemical, nutritional, hematological, and lymphocyte subsets were analyzed.

Despite being considered clinically stable, 91%dings allow us to propose the inclusion of monitoring immune biomarkers, such as subsets of lymphocytes in the follow up of PIEM patients.

The purpose of this study was to evaluate patients diagnosed with 22q11.2 deletion syndrome and determine the clues directing to diagnosis and evaluation of immunological findings for excellent management of the disease.

Thirty-three pediatric patients with 22q11.2 deletion syndrome diagnosed between 1998 and 2019 at Pediatric Immunology Division of Ege University Faculty of Medicine and SBU Izmir Dr Behcet Uz Children's Education and Research Hospital were evaluated.

This study includes the largest case series reported from Turkey. Congenital cardiac anomalies were the most common pathology associated with the syndrome (90.9%). Hypocalcemic symptoms were observed in 13 patients (40%). Twenty-two of the 33 (66.6%) patients were diagnosed before two years of age. Autoimmune diseases, dysmorphic facial findings, recurrent infections, growth retardation, and speech impairment were other clues for diagnosis in older patients. Clinical spectrum and immunological abnormalities of this syndrome are quite variable. All T-cell subset counts were less than 5th percentile below median by age in one patient (3%) and 10 patients had normal all T-cell subset counts (30.3%). Overall, 69.6% of the patients had normal IgG, IgA, and IgM levels and two patients had panhypogammaglobulinemia. Recurrent infections were revealed in 75.7% of the patients during follow-up.

Presence of cardiac anomaly is more helpful in the diagnosis, especially under two years of age. selleck products Patients with immunologically high or standard risk did not show any difference in terms of numbers and severity of infections and autoimmunity.

Presence of cardiac anomaly is more helpful in the diagnosis, especially under two years of age. Patients with immunologically high or standard risk did not show any difference in terms of numbers and severity of infections and autoimmunity.

The Mexican Guidelines for the diagnosis and treatment of urticaria have been published. Just before their launch, physicians' knowledge was explored relating to key issues of the guidelines.

The aim of this study was to investigate the opinion of medical specialists concerning urticaria management.

A SurveyMonkey

survey was sent out to board-certified physicians of three medical specialties treating urticaria. Replies were analyzed per specialty against the evidence-based recommendations.

Sixty-five allergists (ALLERG), 24 dermatologists (DERM), and 120 pediatricians (PED) sent their replies. As for diagnosis ALERG 42% and PED 76% believe cutaneous mastocytosis, urticarial vasculitis, and hereditary angioedema are forms of urticaria, versus DERM 29% (P < 0.005). Most of the specialties find that the clinical history and physical examination are enough to diagnose acute urticaria, except DERM 45% (P < 0.01). DERM 45% believe laboratory-tests are necessary, as opposed to <15% ALLERG-PED (P < 0.005). However, PED 69% did not know that the most frequent cause of acute urticaria in children is infections, versus ALLERG-DERM 30% (P < 0.005). Many erroneously do laboratory testing in physical urticaria and ALLERG 51%, DERM 59%, and PED 37% do extensive laboratory testing in chronic spontaneous urticaria (CSU); many more PED 59% take Immunoglobulin G (IgG) against foods (P < 0.005). More than half of non-allergists do not know about autologous serum testing nor autoimmunity (P < 0.05). As for treatment, there were a few major gaps when CSU was controlled, >75% prescribed antihistamines pro re nata, and >85% gave first-generation antiH1 for insomnia. Finally, >40% of DERM did not know that cyclosporine A, omalizumab, or other immunosuppressants could be used in recalcitrant cases.

Specialty-specific continuous medical education might enhance urticaria management.

Specialty-specific continuous medical education might enhance urticaria management.

Diagnosis of immunoglobulin E (IgE)-mediated egg allergy is often based on both a compatible clinical history and either elevated IgE levels or a positive skin prick test. However, the gold standard is the oral food challenge (OFC). Previous studies have pointed to a correlation between IgE levels and OFC outcomes.

This study aimed to determine the relationship between IgE levels and the outcome of OFC, seeking to establish cut-off OFC values that indicate a high likelihood of positive OFC results.

A total of 198 patients who underwent OFC (and a serological IgE antibody assay within the three preceding months) were reviewed and divided by OFC type (i.e., baked, cooked, or raw egg). IgE-specific levels were assessed against the challenge outcome as well as cut-offs proposed by other authors.

Receiver-operating characteristic (ROC) curve analysis yielded a potentially useful ovomucoid IgE-specific cutoff used in OFC with cooked egg and several egg white and ovalbumin IgE-specific cut-offs for OFC with raw egg. We found no significant relationship between other specific IgE concentrations and the challenge threshold level with baked eggs.

IgE-specific concentrations are useful as predictors of OFC outcome and should be considered when selecting patients challenge testing with boiled or raw egg. However, patients should undergo OFC with baked egg regardless of IgE levels.

IgE-specific concentrations are useful as predictors of OFC outcome and should be considered when selecting patients challenge testing with boiled or raw egg. However, patients should undergo OFC with baked egg regardless of IgE levels.