Cardiovascular anomalies in patients with Tessier syndrome: a systematic review.

Tessier clefts are skeletal and soft tissue abnormalities of a neonate's facial structures. They could be classified as syndromic and non-syndromic clefts, which can be attributed to disruptions in fetal development and genetic mutations, respectively. Reported cases of these clefts typically document the presence of additional abnormalities associated with these clefts. In this systematic review, we analyzed reports of Tessier clefts accompanied by cardiovascular anomalies, as one of the commonly encountered anomalies. We systematically searched PubMed (MEDLINE), Scopus, Web of Science, Science Direct, and Google Scholar. We selected and included case reports, case series, and case reviews on patients with Tessier cleft and cardiovascular anomalies. The critical appraisal of the included studies was performed by two independent investigators using the Consensus-based Clinical Case Reporting Guideline Development (CARE) checklist. Overall, 20 reports (18 case reports and 2 case series) were eligible for inclusion in this review. Tessier clefts 3 and 30 were the most commonly observed. In addition, the most prevalent cardiovascular anomalies consisted of the ventricular septal defect (VSD), double-outlet right ventricle, and atrial septal defect (ASD). Most of the patients received cosmetic and cardiovascular surgeries. However, some were not proper candidates for cardiovascular surgery because of their unstable condition and therefore did not survive.   Conclusion: Regardless of the focus placed on the cleft and subsequent plastic surgery procedures in these cases, it is important to prioritize other abnormalities that may be associated with mortality. A complete cardiovascular system and associated disorders assessment should be performed before facial cosmetic surgeries. What is Known: • Tessier clefts are congenital defects in the soft tissues and bones of the face and like many other congenital defects, they are accompanied by defects in other parts of the body. • In the current literature, the emphasis is on clefts and the cosmetic issues rather than the coinciding defects, particularly cardiovascular anomalies. What is New: • Review the cardiovascular anomalies that are commonly encountered in patients with Tessier clefts.

The association of pro-oxidant/antioxidant balance and blood parameters in patients with beta-thalassemia major: a cross-sectional study.

Background: Oxidative stress due to iron accumulation in patients with beta-thalassemia major (BTM) causes complications such as tissue damage and destruction. This study aimed to assess the association between the serum prooxidant/antioxidant balance (PAB) and blood parameters in patients with BTM. Methods: This cross-sectional study included 92 patients with BTM. In this study, PAB was measured using an enzyme-linked immunosorbent assay (ELISA). Serum ferritin, blood urea nitrogen (BUN), creatinine (Cr), alanine aminotransferase (ALT), aspartate aminotransferase (AST), thyroid-stimulating hormone (TSH), total cholesterol (TC), triglyceride (TG), complete blood cell count (CBC), and history of blood transfusion were recorded. The association of the blood parameters was assessed across the tertiles (T) of serum PAB (highest T vs. lowest T). Results: The results showed that high serum ferritin was directly associated with serum PAB [odds ratio (OR), 12.80; 95% confidence interval (CI), 2.98‒54.91; T3 vs. T1]. Also, direct associations were found for high TC (OR, 4.97; 95% CI, 1.42‒17.32; T3 vs. T1), high ALT (OR, 4.95; 95% CI, 1.33‒18.46; T3 vs. T1) and high TSH (OR, 3.78; 95% CI, 1.10‒13.02; T3 vs. T1). Conclusion: The findings of the present study showed that serum PAB levels were directly associated with ferritin, ALT, TC, and TSH levels. This indicates that improvements in blood parameters, especially ferritin and TSH levels, occur by ameliorating oxidative stress in patients with BTM.

Endogenous Bacteremia Caused by Intestinal Colonization of Carbapenem-Resistant Enterobacteriaceae (CRE) in Immunocompromised Children.

OBJECTIVE: Carbapenem-resistant Enterobacteriaceae (CRE) infection is life-threatening, especially for immunocompromised children. The source tracking of CRE could prevent bacteremia during hospitalization. In this study, the intestinal colonization of CRE and their translocation to blood were investigated. METHODS: Stool samples from immunocompromised pediatric patients were collected after admission, and secondary stool and blood samples were collected in case of fever. After CRE phonotypic detection, the OXA-48, NDM-1, VIM, IMP, and KPC genes were detected by PCR. Enterobacterial Repetitive Intergenic Consensus Polymerase Chain Reaction (ERIC-PCR) was used to determine the phylogenic relatedness of the blood and fecal isolates. RESULTS: Bacteremia was recorded in 71.4% of the patients. Enterobacteriaceae spp. were recorded in 100% of the stool samples and 31% of the blood samples. The correlation between the length of stay (LOS), days of fever, chemotherapy regimens, and death rate was significant (p-value ≤ 0.05). OXA-48 was present in all CRE isolates in both the primary and the secondary stool samples and the blood samples. According to the phylogenetic data, 58.33% of the patients with bacteremia had identical blood and stool isolates. The death rate was 24.4% in children with CRE bacteremia. CONCLUSIONS: The primary intestinal colonization with CRE in immunocompromised pediatrics and their translocation to blood was established in this study. The implementation of infection control programs and the application of infection prevention strategies for immunocompromised children is necessary.

Diversity of malignancies in patients with different types of inborn errors of immunity.

Genetic defects in the development, maturation, and/or function of the immune cells can lead to Inborn errors of immunity (IEI) which may predispose patients to malignancies. The overall risk for cancer in children with IEI ranges from 4 to 25% and the type of malignancy is highly dependent on the specific mutant gene underlying IEI. We investigated 3056 IEI patients registered in the Iranian national registry between the years 1999 and 2020 in this retrospective cohort study. The frequency of malignancy and its association with the type of IEI in these patients were evaluated. A total of 82 IEI patients with malignancy were enrolled in this study. Among them, predominantly lymphoma was the most common type of malignancy (67.1%), followed by leukemia (11%), and cancers of the head and neck (7.3%). Among identified lymphoma cancers, non-Hodgkin's lymphomas were the most frequent type (43.9%) followed by different subtypes of Hodgkin's lymphoma (23.2%). Solid tumors (18.3%) appeared to be very heterogeneous by type and localization. The correlation between the type of malignancy and survival status and the association between the type of malignancy and IEI entities were unremarkable. The awareness of the association between the presence of IEI and cancer highlights the importance of a synergistic effort by oncologists and immunologists in the early diagnosis of malignancy and personalized therapeutic strategies in IEI patients.

Cerebral Infiltrative Lesion and Chronic Clinical Course of the Rosai-Dorfman Disease.

Rosai-Dorfman disease (RDD) is a rare disorder of an unknown etiology, characterized by a benign histiocytic proliferation in the lymph nodes, as well as the extranodal sites. Painless bilateral lymphadenopathy is the classic presentation of RDD in the majority of patients. The exteranodal disease involves the skin, soft tissues, bones, the genitourinary system, the lower respiratory tract, and the central nervous system. A seven-year-old boy was referred to our hospital with left parietal swelling, headache, fever, imbalance, weight loss, and speech and walking impairments. In early examinations, he showed a hyposignal infiltrative lesion in the lateral ventricle and the choroid plexus, expanding to the subcortical white matter of the bilateral temporo-occipital areas. After surgery and sampling, he was diagnosed with cerebral RDD. According to his history, he had bilateral cervical lymphadenopathy at the age of two years, femoral soft tissue involvement at the age of three, and a skin disorder that improved with local treatments at the age of five. However, at the time of referral to the hospital, there were no other symptoms in other areas, except for brain symptoms. In the differential diagnosis of brain lesions with specific borders in high-contrast radiological views, the probability of RDD should be considered, similar to meningioma. The presence of painless and extensive bilateral cervical lymphadenopathy can improve the diagnosis of this disease. Isolated brain involvement in RDD is very rare, and it can be seen in less than 5% of cases. Nevertheless, by early diagnosis and intervention, the risk of complications is reduced, and the prognosis is improved.

Comparison Between eGFR by Schwartz Formula with Measured GFR by Radionuclide Diethylenetriamine Pentaacetic Acid Scan (Tc99 DTPA scan), in Patients Undergoing Chemotherapy with Nephrotoxic Drugs.

INTRODUCTION: Children with malignancy who are under treatment with nephrotoxic drugs are at risk of renal dysfunction. Due to increased life expectancy, evaluation of drug toxicity is now of higher importance than before. The aim of this study is to compare two methods of GFR measurement. METHODS: An analytical study on children with malignancy undergoing chemotherapy with nephrotoxic drugs (cisplatin, carboplatin, cyclophosphamide, ifosfamind, etoposide) during 2016 and 2017 in Mofid Children Hospital was done. Demographic information, anthropometric measurements, type of malignancy, type of chemotherapy medication and also lab tests including CBC and the biochemistry indices were recorded. The GFR of each patient was calculated using Schwartz formula and DTPA scanning. The rates were compared and the difference was analyzed statistically. RESULTS: According to Schwartz formula, 24% of patients needed dose adjustment, while based on DTPA scanning, this rate was 6%. Comparing these two measures by paired T-test, showed a significant statistical difference (P < .05). Schwartz formula had 25.5% more positive results of predicting the need for dose adjustment. The two measured GFRs for each person were evaluated in terms of compatibility and correlation based on Kappa statistical method, which were incompatible and had significant difference (P < .05). CONCLUSION: Using evaluative methods including Schwartz formula cannot demonstrate renal dysfunctions reliability in patients taking nephrotoxic chemotherapy drugs. Eventually if the GFR measurement method overestimates patients with renal dysfunction, the patients will not be able to make adequate use of the therapeutic effects of chemotherapy with the appropriate dosage.

Prevalence of depression in patients with ß-thalassemia as assessed by the Beck's Depression Inventory.

ß-Thalassemia (ß-thal) is a frequent, chronic hereditary disease, and a plausible cause for psychological disorders. In this cross-sectional study, we aimed to identify the rate and severity of depression among Iranian patients with ß-thal using the Beck's Depression Inventory (BDI). ß-Thalassemic patients aged 13-20 years [median age 17.2 years; 27 males (48.2%), 29 females (51.8%)], who presented to the Mofid Children Hospital, Tehran, Iran, for blood transfusions within a 1-year period, were asked to complete the BDI questionnaire. Based on the BDI score, patients were classified as normal or mild-to-severe depression groups, and the collected data were then analyzed according to age and sex. A total of 56 subjects completed the BDI form. Mean score for BDI was 14.27 ± 12.79. Based on the BDI results, 35 (62.5%) had a BDI score below 16 and were therefore not classified as being depressed, while seven (12.5%) patients suffered from severe depression (BDI > 47). Age and gender did not have any significant association with the BDI results (p = 0.52 and p = 0.67, respectively). The total prevalence of various degrees of depression was 30.8% in this study. We concluded that the noticeable rate of depression in thalassemic patients signifies the necessity for improving psychosocial care in this specific group of patients.

Emotional/Behavioral problems in children with acute lymphoblastic leukemia: a case-control study.

INTRODUCTION: Despite achievements in treating acute lymphoblastic leukemia (ALL) in children, its burden on the psychosocial status of patients is not well defined yet. This study aims to determine the impact of childhood ALL on emotional and behavioral pattern of the patients compared to healthy peers as assessed by the Child Behavior Checklist (CBCL). METHODS: We studied 100 children with ALL (aged 6-12 years) and 100 healthy sex/age peers as control group. All ALL cases were treated by chemotherapy alone. After being informed by a psychologist, parents in both groups were asked to complete the CBCL form. Final results were then compared between the two study groups. RESULTS: There were no significant differences between the groups regarding the general characteristics. Failure in school performance, restricted group activity and less social relations were significantly higher in the ALL cases. Total competence was also significantly disturbed for the ALL cases. Social problems, attention problems, aggressive behavior, externalization, attention deficit/hyperactivity, conduct and oppositional defiant problems were significantly more prevalent in healthy children. Somatic problems were significantly higher in the ALL cases. CONCLUSION: Our findings suggest that except for somatic problems, behavioral problems among the ALL cases are significantly less frequent than the healthy peers, which may stem from better care and support from the families. Our unique findings emphasize the need for more research on the psychosocial status of children with cancer in future.

Evaluation of the effects of psychotherapy on anxiety among mothers of children with leukemia.

OBJECTIVE: Children with leukemia and their families face a long period of medical treatment and uncertainty about the future. These families may suffer from short- and long-term emotional problems. The aim of the present study was to assess the effect of supportive psychotherapy on the anxiety of mothers whose children suffer from leukemia. MATERIALS & METHODS: The current research were performed on mothers who had a child with leukemia hospitalized in Mofid Children's Hospital, Tehran, Iran. They were randomly selected. The research method was a quasi-experimental study with pretest/posttest design. The pretest Kettles' anxiety questionnaire was given to all the mothers and after seven sessions of supportive psychotherapy, the posttest was performed and the grades were compared. RESULTS: Ten mothers finished all seven therapeutic sessions. There was a statistically significant difference between the pretest and posttest mean scores, confirming the mothers' reduced anxiety level. CONCLUSION: Finding effective and newer approaches to improve the well-being of parents with a sick child is an important challenge of today's medical researches. Based on our findings, it is possible to reduce the anxiety in mothers of children with leukemia through supportive psychiatric therapies. KEYWORDS: Leukemia; Mothers; Anxiety; Psychology; Child.

Evaluating medical interns' knowledge of common blood transfusion complications.

BACKGROUND: A good knowledge of the proper implication of blood products and the ability to prevent potential complications is crucial, especially for medical interns before embarking upon their career. We aimed to investigate the level of knowledge of common blood transfusion complications among medical interns. METHODS: In this study, 90 medical interns at Shahid Beheshti University of Medical Sciences were asked to fill out a questionnaire consisting of 14 questions on acute complications of transfusion; probable causes of the acute complications and their clinical symptoms; initial treatment of acute reactions; role of parenteral corticosteroids in the treatment; best method of applying epinephrine; follow-up duration; and preventive measures of acute reactions. RESULTS: All the interns enrolled in the study completed the form within the allocated time and sent it back to us. Average total score was 10.94 from 20. There was a significantly acceptable level of awareness of ABO incompatibility, with 96.5% of the total score having been achieved, while general knowledge about treatment methods, observation and risk factors of TRALI was moderate to weak. CONCLUSION: Current educational level for transfusion medicine seems to be inadequate as the medical interns in our study were not sufficiently versed in the complications of blood transfusion and their management.

Association between serum levels of MASP-2 and neutropenic febrile attacks in children with leukemia.

BACKGROUND: Infectious complications are a major etiology of morbidity and mortality in febrile neutropenic patients. Low serum mannose-binding lectin (MBL)-associated serine protease-2 (MASP-2) concentration may represent a risk factor for infection in leukemia patients receiving chemotherapy. This study evaluates the relationship between serum levels of MASP-2 with neutropenic febrile attacks in children with leukemia. METHOD: This prospective cohort study conducted between 2009-2010, we measured baseline serum MASP-2 levels by enzyme-linked immunosorbent assay (ELISA) prior to chemotherapy in leukemia patients less than 14 years of age. The relationship of febrile neutropenia (FN) episodes and duration of hospitalization with MASP-2 concentration was analyzed. RESULTS: We evaluated 75 children [38 girls (51%), 37 boys (49%); mean age, 61.6 ± 43.7 months]. There were 8 (10.7%) children with MASP-2 deficiency (< 200 ng/mL). Mean MASP-2 was 673.2 ± 288.7 ng/mL (range: 116-1112). Eight patients had no FN episodes. Of the 129 FN episodes recorded, 19 (average 2.4 times) were from the MASP-2deficient group and 110 (average 1.6 times) were in the normal group. There was a significant difference between the mean MASP-2 concentration and FN episodes (P = 0.043). There was an inverse relationship between FN episodes (r = -0.332, P = 0.004) and the duration of hospitalization (r = -0.334, P = 0.005) with MASP-2 concentration. MASP-2 deficient patients were hospitalized longer than the normal group, which was strongly significant (P < 0.001). CONCLUSION: Our study confirmed the results of several previous studies. MASP-2 deficiency in leukemic children treated with chemotherapy was associated with an increased risk of FN episodes, prolonged cumulative duration of hospitalization, and intravenous antimicrobial therapy.

Langerhans cell histiocytosis with thyroid involvement in a 3 year-old child - a case report.

Langerhans cell histiocytosis (LCH), a monoclonal disease of histiocytes, may involve several organ systems but rarely primarily involves the thyroid gland. This report presents an extremely rare case of LCH of the thyroid in a 3-year-old boy who presented with a neck mass for several weeks. LCH of the thyroid should be considered in the differential diagnosis of a child with a thyroid mass. Pulmonary examination should be done in these patients.