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Introduction: TBX1 haploinsufficiency is an inborn error of immunity with the phenotype of DiGeorge Syndrome. DiGeorge Syndrome has variable immunodeficiency associated with grade of thymic hypoplasia ranging from mild with no infections to severe requiring thymus implant. Enterovirus is an example of an opportunistic infection that can be fatal in these patients. Case Presentation: A 1 year old girl with TBX1 haploinsufficiency complicated by Tetralogy of Fallot, pulmonary atresia, high arched palate, and vesicovaginal fistula presented for elective cardiac repair surgery from another country due to failure to thrive and cyanosis. She had no prior infectious history but was on sulfamethoxazole-trimethoprim for prophylaxis. She was asymptomatic with a negative COVID test but no other infectious studies performed. Immediately postoperatively, she was febrile and nasal respiratory viral panel was positive for rhinovirus/enterovirus with increased procalcitonin and leukocytosis with left shift. She decompensated with multi-organ failure and cardiac arrest on postoperative day two. She was cannulated to veno-arterial extracorporeal membrane oxygenation (ECMO). Pre-operatively, she had a normal absolute lymphocyte count. No thymus tissue was observed in surgery. She had profound CD3 lymphopenia to 130 cells/cmm when critically ill. Enteroviral meningitis was suspected as no infectious, cardiac, or other pathology could be identified causing decompensation. Enteroviral serum polymerase chain reaction (PCR) test was negative while lumbar puncture deferred due to clinical status. She was treated with immunoglobulin. Offlabel investigational drug pocapavir was considered but deferred to patient's irreversible neurological status. The patient was disconnected from ECMO and expired. Discussion(s): Though we cannot confirm that this patient had enteroviral meningitis, invasive enteroviral infections are associated with elevated transaminases, coagulopathy, and seizures all present in our patient. There has also been reported negative serum enteroviral PCR but positive CSF enteroviral PCR in an immunodeficient patient. Additionally, this case highlights the importance of immunologic evaluation in patients with DiGeorge Syndrome and questions if asymptomatic viral screening for viruses like enterovirus should be considered pre-operatively in patients with inborn errors of immunity. This case highlights potential treatment options for invasive enteroviral infections in patients with inborn errors of immunity: high dose immunoglobulin, fluoxetine, and pocapavir.Copyright © 2023 Elsevier Inc.
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The proceedings contain 193 papers. The topics discussed include: prevalence of auto-antibodies in children and adolescents with type 1 diabetes, and their association with the clinical parameters;steroid induced recurrent central serous chorioretinopathy in thyroid orbitopathy;androgen insensitivity in Klinefelter Syndrome: a rare cause of genital ambiguity;picking up Digeorge Syndrome in hypoparathyroidism: a hit-and-miss 'thumbing' diagnosis;lithium in graves' disease: role for endocrine-nuclear synergy?;changes in long term glycemic CONTROL post covid infection -an observational study;trichotomous presentation of a rare NROB 1 mutation in a single family;a cross sectional study on the metabolic and hormonal profile of patients on lithium;reproductive manifestation of coeliac disease in males;low bone mineral density, hypovitaminosis D, hypophosphatemia, increased fractional excretion of phosphorous and sarcopenia in persons living with human immunodeficiency virus (Plhiv) taking tenofovir based anti-retro viral therapyin a tertiary care center in south India;and melorheosteosis-fluorosis conundrum in a patient of hypoparathyroidism.
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INTRODUCTION: DiGeorge Syndrome is a relatively common microdeletion syndrome defined by a deletion in chromosome 22 at position 22q11.2 and clinically characterized by T-cell deficiency, unique facial features, congenital heart disease and hypocalcemia. Complete DiGeorge Syndrome refers to a subset that is athymic (< 1%) without any T cell function. The adaptive immune response is then disturbed leading to an increased susceptibility to infections given the lack of cytotoxic response to infected cells. In this population, pathogens can persist and have unique presentations due to the lack of an adaptive immune response. DESCRIPTION: We present a case of persistent COVID-19 in a 3-year-old male with complete DiGeorge syndrome. Two months prior to presentation, he was treated with remdesivir for a symptomatic COVID-19 infection. He later represented with severe persistent hypocalcemia despite aggressive IV electrolyte repletion as well as a new acute hemolytic anemia with positive Coombs and concern for Graft vs Host disease. During his hospital course, he had worsening respiratory status leading to re-intubation. Bronchoscopy with BAL showed significant SARS-CoV-2 viral load and he was started on a repeat course of remdesivir and convalescent plasma. Two weeks after initial bronchoscopy, repeat BAL samples showed unchanged SARS-CoV-2 viral load leading to another course of remdesivir and convalescent plasma. After a month of invasive ventilation, he was able to be successfully extubated and eventually discharged from the hospital, despite having persistently an elevated SARS-CoV-2 viral load and polymerase chain reaction testing positivity. DISCUSSION: This case illustrates a unique situation of COVID-19 in a patient without an adaptive immune response due to complete DiGeorge Syndrome. This patient population is athymic without any T cell function leading to a lack of cytotoxic response and a susceptibility to infections due to the inability to clear infected cells. With COVID's high mutation rate leading to multiple new strains, we present a case illustrating the possibility of new strain mutations developing due to persistent COVID in a patient with an inability to clear the viral infection.
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Purpose/Objectives: Understand the rates of pediatric obesity in the Inland Empire of Southern California, in the context of COVID quarantine, to improve counseling and treatment of these patients. Design/Methods: A retrospective chart review was performed on all patients seen at a FQHC in Southern California. Patients between 5 and 18, who had a clinic visit between 6/1/2020 to 7/31/2020 for a well-child visit, with at least one other well-child visit in calendar year 2019 and 2018 were included. Patients with congenital heart disease, short gut syndrome, ADHD on stimulant medications, G tube dependence, diseases affecting growth or stature, complex syndromes (CHARGE, VACTERL, DiGeorge), syndromes affected growth, oncologic conditions, intellectual disability, transplant recipients, incomplete BMI data or malnutrition (BMI Z score <= -1) were excluded. BMI values, Z-scores, and percentiles, as well as relative changes from 2018 to 2019, and 2019 to 2020 were analyzed using one-way ANOVA and Tukey post hoc test. Results: There was a statistical difference in BMI between years as determined by a one-way ANOVA (F(2,509) = 2.811, P = 0.05). A Tukey post hoc test revealed that the BMI of students in 2020 was statistically higher (19.87.65, p = 0.05) compared to the BMI in 2018 (18.25.71). There was no statistical difference in BMI between 2020 and 2019, and 2019 and 2018 (Figure 1). When groups were stratified into morbidly obese (BMI >= 99%), obese (BMI >=95% & <99%), overweight (BMI >=85% & <95%), and healthy weight (BMI >=5% & < 85%), patients who were not at a healthy weight increased from 36.8% in 2018 to 40.4% in 2019, to 44.7% in 2020 (Figure 2). As shown in the SANKEY diagram (Figure 3), while there was an initial decline in morbidly obese patients in 2018 to 2019 (-8.3%), there was a relatively large increase from 2019 to 2020 (+45.5%). From 2018 to 2019, 75 out of 141 patients (53.2%) had a decrease in BMI, while in 2019 to 2020 there were 56 out of 141 patients (39.7%) who had a decrease in BMI. Out of the 75 patients who had a decrease in BMI from 2018 to 2019, 49 (65.3%) had a rebound increase in BMI from 2019 to 2020. Conclusion/Discussion: There was a significant increase in overall BMI from 2018 to 2020 with an overall increase in patients who fall into the obese and overweight categories in 2020. 65.3% of patients who had a decreasing BMI from 2018 to 2019 have a rebound increase in BMI in 2020. This can likely be contributed to the COVID-19 pandemic and stay-at-home orders leading to a more sedentary lifestyle. More research should be performed to elicit multifactorial (physical activity, diet, and psychosocial factors) etiology of the worsening obesity epidemic during the COVID-19 pandemic.
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Objective: The objective of this study was to determine factors that may affect anesthesia and surgical complications, difficult airway, and the need for intensive care unit (ICU) care in cleft lip and cleft palate (CLCP) surgeries. Materials and Methods: The study was a retrospective review of the records of 617 patients who underwent CLCP surgery between 2015–2019. Results: The number of anesthesia complications was higher in patients with difficult mask ventilation. Surgical complications were more common in patients >1 year of age. Isolated cleft palate (CP) surgery;presence of a concomitant disease, syndrome, or micrognathia;age >1 year;and the CP subtype were associated with a higher rate of difficult intubation. Isolated cleft palate, concomitant disease, syndrome, micrognathia, difficult intubation, difficult mask ventilation, and anesthesia complications were associated with ICU admission. Conclusion: The CP subtype was associated with a higher rate of difficult intubation and ICU hospitalization even in patients who were nonsyndromic and/or >1 year of age. Therefore, special attention should be paid to the anesthesia and surgical management of these patients.
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Purpose: Menstruation can be more complicated for adolescents with intellectual disabilities (ID) as a result of concerns surrounding menstrual hygiene, abuse risk, changes in seizure patterns and mood. This study aimed to assess the impact of menstruation on the quality of life (QoL) of 10-24-year-old females with a genetic syndrome accompanying ID. Methods: The study population was comprised of 49 patients with a genetic syndrome and ID [Down syndrome (23), Angelman Syndrome (3), DiGeorge syndrome (7), Williams syndrome (11), Rett syndrome (5)] who were clinically followed at Hacettepe University Children’s Hospital and 51 age-matched healthy controls. The level of ID was defined by the Weschler Intelligence scale for children, accordingly, 16(32.7%) had mild and 33(67.3%) had moderate- severe ID. Demographic data, a survey developed by the authors evaluating menstrual history (age of menarche, cycle length and regularity, days of flow, number of pads changed), difficulties while menstruating, school abstinence, dysmenorrhea and premenstrual changes, the Childhood health assessment questionnaire used to evaluate physical impairment and the Quality of life scale which was asked for both general and while menstruating was collected. Due to COVID-19 restrictions data was collected with telephone interviews. For patients with mild ID the patient (n=12) and caregivers (n=14) whereas for those moderate-severe ID only the caregivers were questioned (n=33). Results: Menstrual history was not different between the patient and control group. Menstruation related school absenteeism was higher among patients (8% vs 33.3%, p=0.002). Dysmenorrhea (88% vs 65.3%, p=0.008), and the need for pain medication (52% vs 26.5%, p=0.01) were higher in the control group when compared with mothers’ reports. The control group reported higher levels of aggression (30.0% vs 8.2%, p=0.006) and irritability (70.0% vs 38.6%, p=0.012) during menstruation compared to the reports of mothers. However, dysmenorrhea (83.3%, p= 0.665 ), aggression (41.7%, p=0.438) and irritability (66.7%, p=0.822) symptoms were reported higher by patients with mild ID when compared to the reports of their mothers and these rates were similar to that of the controls. Patients reported their social functioning during menstrual periods was lower than the control group (73.75±21.96 vs 91.60±14.12, p=0.005). Overall the menstruation-related QoL scores of patients were lower than controls, however the difference was not significant. None of the mothers in our study requested menstrual suppression. Conclusions: Contrary to western studies, the results did not show a significant difference in menstruation-related QoL perceived by the mothers which we believe could be a cultural distinction. Despite the complicated and demanding needs of caring for a child with ID, Turkish mothers did not perceive menstruation to negatively affect the well-being of their child. Difficulty in understanding dysmenorrhea in a child with ID and baseline irritability due to their primary disorder could also be the case. Our clinical observation has been that menstruation is perceived as a sign of health by mothers of children with ID which may also explain why none requested menstrual suppression. Sources of Support: No support has been received for this study.