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PURPOSE: Combined immunodeficiency (CID), due to mutations in TFRC gene that encodes the transferrin receptors (TfR1), is a rare monogenic disorder. In this study, we further characterize the clinical and immunological phenotypes in a cohort of eight patients. METHODS: A retrospective review of clinical and immunological features of patients diagnosed with a TFRC gene mutation between 2015 and 2019 in three tertiary centers. RESULTS: Eight patients from six unrelated families were enrolled. The patients had a median age of 7 years (4-32 years). All patients presented with recurrent sinopulmonary infections, chronic diarrhea, and failure to thrive in early life. Less common features were skin abscesses, conjunctivitis, global developmental delay, optic nerve atrophy, vitiligo, multinodular goiter, and hemophagocytic lymphohistiocytosis-like symptoms. All patients had intermittent neutropenia and 87% of the patients had recurrent thrombocytopenia. Anemia was found in 62%. All patients had hypogammaglobinemia and one had a persistent high IgM level. All patients had impaired function of T cells. The same homozygous missense mutation c.58T>C:p.Y20H, in the TFRC gene, was detected in all patients. Stem cell transplantation from matched donors was successful in two patients. Five patients did not receive stem cell transplantation, and they are on prophylactic treatment. One patient died due to severe sepsis and neurological complications. CONCLUSION: This report provides a large cohort with a long follow up of patients with this disease. Our cohort showed variable disease severity.
Assuntos
Antígenos CD/genética , Mutação , Fenótipo , Doenças da Imunodeficiência Primária/diagnóstico , Doenças da Imunodeficiência Primária/genética , Receptores da Transferrina/genética , Imunodeficiência Combinada Severa/diagnóstico , Imunodeficiência Combinada Severa/genética , Adolescente , Adulto , Biomarcadores , Criança , Pré-Escolar , Feminino , Estudos de Associação Genética , Predisposição Genética para Doença , Humanos , Imageamento por Ressonância Magnética , Masculino , Neuroimagem , Estudos Retrospectivos , Adulto JovemRESUMO
BACKGROUND: A global concern about a possible association between COVID-19 vaccines and menstrual disturbance has been raised. Moreover, women who have experienced menstrual changes are worried about the length of the side effects and are hesitant to receive booster doses. Therefore, the aim of this study is to evaluate the impact of the COVID-19 vaccine on all features of the menstrual cycle, including cycle length, amount of bleeding, and pain. METHODOLOGY: We retrospectively analyzed menstrual cycles following at least two doses of COVID-19 vaccines; the cycle changes within the individual pre-vaccination and post-vaccination were compared. All reproductive-aged females from 18 to 45 years who fit the inclusion criteria were included in the study and categorized into five sub-categories based on age to investigate whether certain age groups were most affected. The data were collected through a well-structured self-administered questionnaire. Participants obtained their vaccination information (date, type of vaccine) from Tawakkalna, the official COVID-19 application in the Kingdom of Saudi Arabia. IBM Corp. Released 2019. IBM SPSS Statistics for Windows, Version 26.0. Armonk, NY: IBM Corp was performed in data entry and statistical analysis. Variables were described as frequency and percentage, as all were categorical. To investigate the association between menstrual changes and its possible associated factors, we used the Chi-square test, and the statistical significance was determined at p<0.05. RESULTS: The online questionnaire received responses from a total of 1092 reproductive females. However, out of which, 419 were not fitting into the inclusion criteria. Thus, a total of 673 females were included in the final report. Overall, the changes in the menstrual cycles after both COVID-19 vaccine doses were observed among 46.7%, mainly more menstrual pain in 22.9% following the first dose compared with 21.4% after the second. Menstrual changes were observed among almost two-thirds of women in the age groups 18-22 years (65.2%) and 38-45 years (65.4%) compared with only 43.5% of those in the age group 23-27 years, p<0.001. The Moderna vaccine was associated with the highest rate of menstrual changes (65.4%), whereas Oxford-AstraZeneca was associated with the lowest rate (44.9%), p=0.040. The duration of changes in the cycles after the COVID-19 vaccine (one dose or both) was less than one month among 42.5% of females, whereas it was three months or more among 27.1%. CONCLUSION: The COVID-19 vaccination is associated with a minor and transient change in the menstrual cycle, resulting mainly more menstrual pain and increased bleeding.
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Background A considerable subpopulation of patients with morbid obesity present with dyslipidemia. It is characterized by elevated total cholesterol (TC), triglyceride (TG), low-density lipoprotein (LDL), and low high-density lipoprotein (HDL) concentrations. Sleeve gastrectomy (SG) is considered a method of treating morbid obesity and associated dyslipidemia. Objective To assess the effect of bariatric and metabolic surgery on lipid profile of morbidly obese patients. Methods We used a retrospective approach analyzing the lipid profiles of patients who underwent SG between January 2018 and July 2020. Patients were enrolled according to age (>17 years), pre-operative body mass index (BMI; >30 kg/m2), undergoing SG, and having complete follow-up records of lipid profiles. Baseline and post-operative lipid profiles, their variation, and the percentage of variation were compared. Results We analyzed data of 163 patients who underwent SG. The mean age was 36.75 ± 10.75 years, the mean BMI was 45.66 ±8.46, and the mean pre-operative TC, LDL, HDL, and TG were 4.67 ± 1.02, 2.55 ± 1.1, 1.14 ± 0.32, and 1.5 ± 1.11, respectively. There was a significant change in the mean level of TG as it was significantly higher pre-operatively compared to its mean level post-operatively. Furthermore, a significant change was observed in HDL. There was a non-significant change in levels of TC and LDL post-operatively. Conclusion SG showed to significantly reduce TG and elevate HDL in morbidly obese patients. On the contrary, TC and LDL were non-significantly affected. Further studies with longer follow-up are warranted to provide more reliable evidence.