Association of RASis and HMG-CoA reductase inhibitors with clinical manifestations in coronavirus disease 2019 patients: Results from the Khorshid Coronavirus Disease Cohort Study.

Background: Angiotensin II receptor blockers (ARBs) and angiotensin-converting enzyme inhibitors (ACEinhs) may deteriorate or improve the clinical manifestations in severe acute respiratory syndrome coronavirus 2 infection. A comparative, cross-sectional study was conducted to evaluate the association of ARBs/ACEinhs and hydroxy-3-methyl-glutaryl-CoA reductase inhibitors (HMGRis) with clinical outcomes in coronavirus disease 2019 (COVID-19). Materials and Methods: From April 4 to June 2, 2020, 659 patients were categorized according to whether they were taking ARB, ACEinh, or HMGRi drugs or none of them. Demographic variables, clinical and laboratory tests, chest computed tomography findings, and intensive care unit-related data were analyzed and compared between the groups. Results: The ARB, ACEinh, and HMGRi groups significantly had lower heart rate (P < 0.05). Furthermore, a lower percent of O2 saturation (89.34 ± 7.17% vs. 84.25 ± 7.00%; P = 0.04) was observed in the ACEis group than non-ACEinhs. Mortality rate and the number of intubated patients were lower in patients taking ARBs, ACEinhs, and HMGRis, although these differences failed to reach statistical significance. Conclusion: Our findings present clinical data on the association between ARBs, ACEinhs, and HMGRis and outcomes in hospitalized, hypertensive COVID-19 patients, implying that ARBs/ACEinhs are not associated with the severity or mortality of COVID-19 in such patients.

Prevalence of nephrocalcinosis in children with congenital adrenal hyperplasia.

Background: We aimed to investigate the prevalence of nephrocalcinosis (NC) among children with diagnosed congenital adrenal hyperplasia (CAH). Our findings would be helpful for earlier diagnosis, management, and prevention of NC-related complications. Materials and Methods: In this cross-sectional study, children with CAH, aged <18 years old who were regularly referred for follow-up, were included. The information of the patients was extracted from their medical files, and they underwent renal ultrasonography for evaluation of the presence of NC. Results: From 120 studied patients with CAH, four patients (3.3%) had NC. The prevalence of NC was higher in males than females (P = 0.05). Mean age and age of CAH diagnosis had a trend to be lower in CAH patients with NC than those without. Regression analysis indicated significant association between NC and sex (P = 0.027, r = 2.24). Conclusion: The results of this study indicated a 3.3% prevalence rate of NC for children with CAH. NC had a trend to be more prevalent in male children with CAH. Though it was not significantly different but given that the mean age and age at diagnosis of CAH in children with CAH and NC was lower that CAH patients without NC, it is suggested that in patients with CAH and NC other factors such as genetic background or unknown disease related factors are associated with hypercalcemia and NC.

Homozygous TFG gene variants expanding the mutational and clinical spectrum of hereditary spastic paraplegia 57 and a review of literature.

In recent years, the tropomyosin-receptor kinase fused gene (TFG) has been linked to diverse hereditary neurodegenerative disorders, including a very rare complex hereditary spastic paraplegia, named spastic paraplegia type 57 (SPG57). Until now, four pathogenic homozygous variants of the TFG gene have been reported associated with SPG57. Two consanguineous Iranian families (1 and 2), the first one with two affected members and the second one with one, all with an early-onset progressive muscle weakness, spasticity, and several neurological symptoms were examined via the whole-exome sequencing. Two homozygous missense variants including c.41A>G (p.Lys14Arg) and c.316C>T (p.Arg106Cys) have been found in the related families. The candidate variants were confirmed by Sanger sequencing and found to co-segregate with the disease in families. The bioinformatics analysis showed the deleterious effects of these nucleotide changes and the variants were classified as pathogenic according to ACMG guidelines. A comparison of the clinical presentation of the patients harboring c.41A>G (p.Lys14Arg) with previously reported SPG57 revealed variability in the severity state and unreported clinical presentation, including, facial atrophy, nystagmus, hyperelastic skin, cryptorchidism, hirsutism, kyphoscoliosis, and pectus excavatum. The affected member of the second family carried a previously reported homozygous c.316C>T (p.Arg106Cys) variant and displayed a complex HSP including optic atrophy. Remarkable clinical differences were observed between the family 1 and 2 harboring the c.41A>G (p.Lys14Arg) and c.316C>T (p.Arg106Cys) variants, which could be attributed to the distinct affected domains (PB1 domains and coiled-coil domains), and therefore, SPG57 might have been representing phenotype vs. variant position correlation.

Predictive value of colonic transit time indices for differentiating nonnormal from normal sensation in children with chronic functional constipation identified by anorectal manometry.

BACKGROUND: Constipation is a common disorder in pediatrics, although the underlying pathogenesis is not fully understood. The current study aimed at evaluating the efficacy of different colonic transit time (CTT) indices for differentiating normal from nonnormal sensation in children with chronic functional constipation identified by anorectal manometry (ARM). MATERIALS AND METHODS: In this cross-sectional study, 47 children with chronic idiopathic constipation, aged 5-15 years, were studied. The total and segmental CTTs were estimated by administering multiple radiopaque markers for 6 days and performing a single abdominal radiograph on day 7. Anorectal function was evaluated using manometry with an Arhan probe. The predictive value of CTT indices was evaluated by receiver operating characteristic curve analysis. Area under the curve (AUC) along with 95% confidence interval (CI) as well as sensitivity and specificity was calculated. RESULTS: The mean age of the participants was 8.30 ± 2.99 years, with a mean constipation duration of 2.90 ± 0.46; 28 children were identified with nonnormal sensation. The mean values of CTT indices were statistically significantly longer in the nonnormal sensation patients than that in the normal group (P < 0.001). In addition, the mean values of manometry parameters were statistically significantly higher in nonnormal sensation patients than that in normal group (P < 0.01). Among CTT indices, rectosigmoid CTT (AUC [95% CI] =0.999 [0.99-1]; P < 0.001) with sensitivity = 100% and specificity = 94.7% and total CTT (AUC [95% CI] =0.972 [0.93-1] P < 0.001) with sensitivity = 82.3% and specificity = 100% had the highest predictive values for differentiating nonnormal from normal sensation patients. CONCLUSION: CTT is a simple and noninvasive technique for classifying patients with constipation. It can be used for identifying children suffering from chronic constipation with nonnormal sensation reliably, instead of ARM. Colonic inertia may be a manifestation of global motility dysfunction. Children with delayed distal colonic transits are more likely to have abnormal defecation dynamics.

Doppler assessment of children with liver cirrhosis and portal hypertension in comparison with a healthy control group: An analytical cross-sectional study.

BACKGROUND: Doppler ultrasonography (Doppler US) plays an important role in evaluating patients with liver cirrhosis. This study aims to investigate the hemodynamic alterations of hepatic artery and portal vein among children with liver cirrhosis and portal hypertension (esophageal varices). MATERIALS AND METHODS: We conducted an analytical cross-sectional study in Imam Hossein Children's Hospital, Isfahan, Iran, in 2016. A number of 33 cirrhotic children with or without esophageal varices were selected through convenience sampling method to be compared with 19 healthy children as controls using color and spectral Doppler US. RESULTS: Portal vein mean velocities were 15.03 ± 7.3 cm/s in cirrhotics, 16.47 ± 6.4 cm/s in controls (P = 0.51), 11.6 ± 4.7 cm/s in patients with varices, and 17.9 ± 7.3 cm/s in patients without varices (P = 0.015). Mean diameters of caudate lobe, portal vein, and splenic vein, as well as the mean values of liver and spleen span, were significantly higher in cirrhotic children. The frequency of flow reversal (hepatofugal flow) was not detected significantly different in cirrhotics. Peak systolic velocity, end diastolic velocity, pulsatility index, and resistive index for hepatic artery as well as liver vascular index were not significantly different in cirrhotics in comparison with controls. CONCLUSION: Alterations in Doppler parameters of portal vein including diameter and velocity may be the helpful indicators of liver cirrhosis and esophageal varices in children, respectively. Parameters of hepatic artery may not differentiate children with liver cirrhosis.

How may Doppler indices help in the differentiation of obstructive from nonobstructive hydronephrosis?

BACKGROUND: We assess the potency of different Doppler indices in the differentiation of obstructive and nonobstructive hydronephrosis. MATERIALS AND METHODS: In this study, infants and children who were referred for the evaluation of unilateral hydronephrosis were enrolled. Ultrasonography for the assessment of the degree of hydronephrosis and a voiding cystourethrogram for the exclusion of vesicoureteral reflux was performed. Then, Doppler ultrasonography was done for both kidneys of each patient using four classic Doppler indices as well as the difference (delta) of each index between to kidneys. Diuretic renography with 99 mTc-ethylene dicysteine (99 mTc-EC) was performed for each patient. RESULTS: Thirty-nine patients met the inclusion criteria. After diuretic renography, 29 (74.35%) patients had shown a nonobstructive pattern, and ten (25.65%) patients had a partial (intermediate) or complete obstruction. Using receiver operating characteristic (ROC) curve, none of the classic indices of Doppler duplex (i.e., resistive index [RI], resistance index, end diastolic velocity, and peak systolic velocity) had the ability to make a difference between obstructive and nonobstructive hydronephrosis. However, by calculating the difference (delta) of these indices between two kidneys of each patient, delta RI could differentiate the nonobstructive condition, significantly (P = 0.006). A cutoff value of 0.055 has 60% sensitivity and 82.8% specificity. The area under the ROC curve for delta RI is 0.795 (standard error: 0.086, 95% confidence interval [CI]: 0.626, 0.964). Furthermore, RI ratio between two kidneys of each patient could differentiate the nonobstructive condition, significantly (P = 0.012). A cutoff point of 1.075 has 70% sensitivity and 82.8% specificity. The area under the ROC curve for RI ratio was 0.769 (standard error: 0.104, 95% CI: 0.565, 0.973). CONCLUSION: This study shows that RI ratio and delta RI with a high specificity could differentiate nonobstructive hydronephrosis and therefore it is a promising way to use especially in the follow-up of children with hydronephrosis.

Evaluation of the pelvic apophysis with multi-detector computed tomography for legal age estimation in living individuals.

BACKGROUND: Legal age estimations of living individuals are gaining increasing importance for radiologists involved in delivering expert opinions. The present study aimed to assess the correlation between chronological age and apophyseal centers distance from pelvic bone. MATERIALS AND METHODS: This was a cross-sectional study carried out on 2013. Subjects were chosen from 15 to 25 years old people who had previous pelvic multi-detector computed tomography for any reason. The distance of iliac crest apophysis to iliac bone, and pubic apophysis to pubic bone were assessed. RESULTS: There was a reverse linear correlation between chronological age and distance of iliac crest apophysis (P < 0.001, r = 0.899) and pubic apophysis to pelvic bone (P < 0.001, r = 0.898). Pubic apophysis was not appeared in subjects before 16 years old and it was appeared in all of the subjects with 18 years old and more. Subjects with age of 21 had near ossification of iliac or pubic apophysis and subjects with age of 24 had full ossification of iliac or pubic apophysis. CONCLUSION: skeletalage can be estimated by assessing the apophyseal centers distance from the pelvic bone in adolescents 15-25 years old.

Evaluation of Magnetic Resonance Imaging (MRI) Findings following posterior Sagital Ano-Recto Plasty (PSARP) in Severe Incontinent Children with High Imperforate Anus (IA).

Background: The aim of this study was to evaluate pelvic MRI accuracy for measurement of anatomical land marks in severe fecal incontinent (FI) children with high imperforate anus (IA). Materials and Methods: A total of 80 children (40 cases and 40 controls) aged more than 4 years with severe FI were assessed. Magnetic resonance imaging was performed by a radiologist with the same device. For pelvic anatomical land marks measurement, we measured the ano-rectal angel and hiatal/pc ratio. Results: The mean of ano-rectal angel was 118.67 ± 25.2 mm in cases and 132.07 ± 13.8 mm in control group (P = .004). H/PCR was 0.63 ± 0.05 in cases and 0.62 ± 0.45 in controls (P = NS). There was no significant correlation between (r = 0.25, P = 0.36) or ano-rectal angle measurement (r = 0.16, P = 0.05) and FI score in patients with severe FI. Conclusions: Pelvic magnetic resonance imaging could be accurately used is measuring the ano-rectal angle is high IA children with severe FI which leads to selected patients who may have benefits of reoperation.

Usage of ultrasound indices in nocturnal enuresis treated with desmopressin therapy.

BACKGROUND: Nocturnal enuresis is a common problem in children and could be treated with desmopressin therapy. Here we assessed ultrasound indices affecting disease severity and treatment responses in candidates for pharmacotherapy for nocturnal enuresis. METHODS: This prospective study was conducted in 2021-2022 on children diagnosed with nocturnal enuresis and candidates for desmopressin therapy. Demographic data of patients including age and gender were collected by a checklist. The severity of the disease was categorized into mild, moderate and severe. We measured the bladder volume index (BVI), bladder wall thickness (BT) and bladder volume wall thickness index (BVWI) by ultrasound. Patients were treated with desmopressin (administered 120 µg, stat and before sleeping) for 4 months and treatment responses were determined and compared. RESULTS: In this study, data from 72 patients were analyzed. Complete response was achieved in 16 patients (22.2%), 25 patients (34.7%) had a good response to treatments, 18 patients (25%) had a partial response and 13 patients (18.1%) had no response. There was a significantly positive correlation between low and normal BVWI and the severity of the disease. Normal BVWI was found mostly in children with a mild degree of nocturnal enuresis; while low BVWI was associated with severe cases. There was a significant inverse correlation between response to treatment and bladder wall thickness. BVWI was significantly correlated with response to treatment. It was shown that 81.3% of children with complete responses and 76% of children with good responses had a normal BVWI, while 76.9% of children who showed no response to treatment had a low BVWI. CONCLUSION: BVWI and bladder wall thickness were significantly correlated with treatment response and BVWI had significant correlations with disease severity.

Primary Esophageal Small Cell Neuroendocrine Carcinoma in a Child: A Case Report with Review on Demography, Presentation, Treatment, and Survival.

Primary gastrointestinal small cell carcinoma is reported 0.1%-1.0% of malignant gastrointestinal tumors and predominantly in the esophagus. All reported cases are in the adult population. We present a 9-year-old boy with small cell neuroendocrine carcinoma of the esophagus with mediastinal lymph node involvement, whose chief complaint was progressive dysphagia. He survived for 22 months with chemoradiation but did not have resectional surgery. Although small cell neuroendocrine carcinoma of the esophagus is extremely rare in children, it should be considered in the differential diagnosis of any undifferentiated tumor of the esophagus in any age.

Comparison of diagnostic values of two magnetic resonance imaging (MRI) protocols for diagnosis of breast lesions.

BACKGROUND: Magnetic resonance imaging (MRI) has a pivotal role in diagnosing breast lesions. Here we aimed to compare the diagnostic values of Abbreviated and Full Breast MRI for breast lesions. METHODS: This is a cross-sectional study performed in 2017-2021 on 80 women with breast lesions. Using the available MRI analysis software, the necessary sequences for the Abbreviated MRI were extracted from standard breast MRI protocol. First, a Full Breast MRI was examined by a radiologist giving Breast imaging-reporting and data system (BI-RADS). Then, from this Full Breast MRI, the necessary sequences for Abbreviated Breast MRI were prepared. The second expert radiologist read them in this field and BIRADS was reported. The data relating to each patient were recorded in the patient-specific profile and then the pathology results were followed for each patient. RESULTS: Modified breast MRI had 84% sensitivity and 58.18% specificity, while full Breast MRI had 100% sensitivity and 38.18% specificity. Comparing the results of pathology (benign or malignant) for breast tumors and BIRADS reported by modified breast MRI indicated that these results were similar in 53 cases (66.3%) and different in 27 patients (33.8%). On the other hand, similar assessments for Full Breast MRI and pathology reports showed that the results were the same in 46 patients (57.5%) and different in 34 patients (42.5%). CONCLUSION: Abbreviated breast MRI has lower sensitivity and higher specificity than full breast MRI.

The Effect of Low-Grade Intraventricular Hemorrhage on the Neurodevelopment of Very Low Birth Weight Infants.

Objective: Intraventricular hemorrhage (IVH) is a significant concern for premature very low birth weight (VLBW) neonates worldwide. Recently, the popular theory of the benign nature of low-grade IVH has been argued with uncertain outcomes. This study aimed to assess the effect of low-grade IVH on the neurodevelopment of VLBW neonates. Materials & Methods: This six-month follow-up cohort study was conducted on VLBW neonates with and without grade I-II IVH diagnosed through brain ultrasonography. Participants were neurologically examined at birth and within six months. Neurodevelopment was assessed using the Bayley-III questionnaire, which includes evaluating cognition, receptive language, expressive language, fine motor, and gross motor performance. Results: A total of 100 VLBW neonates were recruited, including 40 cases with grade I-II IVH diagnosed through brain ultrasonography and 60 controls. Cases and controls were similar in terms of gestational age, body birth weight, hospitalization duration, gender distribution, and age at Bayley-III evaluation (P>0.05). The neurological assessments at birth showed no significant difference between the two groups (P=0.20), while controls showed significantly better results at the sixth month of age (P =0.004). Concerning different neurodevelopmental indices, after adjusting for demographic characteristics and respiratory-related variables at the time of Bayley-III evaluation, controls presented a higher performance in cognition and gross motor aspects compared to cases (P= 0.04 and 0.03, respectively). Conclusions: The low-grade IVH affected the sixth-month neurological examination and gross motor performance of the VLBW newborns. Notably, cognition and gross motor were the two affected subscales in the presence of low-grade IVH, independent of demographic factors.

Prevalence of Nonalcoholic Fatty Liver Disease in Children with Renal Failure Underwent Treatment with Dialysis.

Background: In this study, we aimed to investigate the prevalence of nonalcoholic fatty liver disease (NAFLD) in children with renal failure under treatment with dialysis and its association with biochemical measurements. Methods: In this cross-sectional study, children aged less than 18 years with chronic kidney disease (CKD) who were under treatment with dialysis at least 3 months ago were enrolled. To evaluate fatty liver in those patients who had no recent liver ultrasonography (last 6 months), liver ultrasonography was performed. The characteristics of patients with renal failure with and without NAFLD based on the ultrasonographic evaluation were compared. The association between NAFLD and the studied variables was evaluated. Results: In this study, 39 children (31 males and 8 females) with renal failure who underwent treatment with dialysis were included. From the studied population, six (19.4%) had NAFLD based on ultrasonographic evaluation. There were no differences between renal failure patients with and without NAFLD regarding the biochemical and anthropometric characteristics (P > 0.0). Conclusions: The prevalence of NAFLD in our studied children with renal failure who underwent treatment with dialysis was like the general population and it was not associated with the biochemical and anthropometric characteristics of the patients. Given the importance of NAFLD in renal failure patients as well as its subtle nature, it is recommended to screen patients with CKD for NAFLD.

Identification of a Missense Variant in the EIF2B3 Gene Causing Vanishing White Matter Disease with Antenatal-Onset but Mild Symptoms and Long-Term Survival.

Vanishing white matter disease (VWM) is a rare autosomal recessive leukodystrophy caused by a mutation in any of the five gene encoding subunits of the translation initiation factors eIF2B1 to eIF2B5. Whole-exome sequencing was performed on a 7-year-old boy with prenatal symptoms, including intrauterine-growth retardation, decreased movements, and oligohydramnios as well as mild intellectual disability, optic atrophy, macrocephaly, mild ataxia, and white matter lesions after birth. Analysis of WES data revealed a homozygous missense variant, c.C590T (p.Thr197Met) in the EIF2B3 gene (NM_0203650). The candidate variant was confirmed by Sanger sequencing and found to co-segregate with disease in family members. Pathogenicity analysis, 3D protein modeling, and stability assessment showed the deleterious effects of this nucleotide change. Previous studies suggest a direct relationship between the onset of symptoms and the progression rate and severity of the disease. All described cases of EIF2B deficiency with antenatal-onset led prenatal death; if they were born, they experienced clinical exacerbation, seizure, severe encephalopathy, and consequent infantile death (< 1 year). The patient of this study had never had seizure, which could be a potential explanation for the observed mild clinical picture, chronic state, and long-term survival until the age of seven. This study reported the first VWM due to EIF2B gene deficiency with antenatal-onset but mild symptoms and long-term survival. The result of this study showed that stressor factors, particularly seizure, could have a substantial role in poor prognosis and early neonatal death.

Comparing Sedative Effect of Dexmedetomidine versus Midazolam for Sedation of Children While Undergoing Computerized Tomography Imaging.

BACKGROUND: Pediatric anxiety and restlessness may create issues and difficulties in performing accurate diagnostic studies even noninvasive ones, such as radiological imaging. There are some agents that will help to get this goal. This study aimed to compare the intranasal effect of dexmedetomidine (DEX) and midazolam (MID) for sedation parameters of children undergoing computerized tomography (CT) imaging. MATERIALS AND METHODS: A double-blind clinical trial was conducted on 162 eligible children who underwent CT imaging. These patients were divided into two groups including MID (n = 81) with dose of 0.3 mg.kg and DEX (n = 81) with dose of 3 µg.kg, which was consumed intranasally. The mean blood pressure (MBP), respiratory rate (RR), heart rate (HR), and oxygen saturation (O2Sat) in children were recorded. Then, time of initiation, level of sedation, and duration effect of medication were measured at 0, 10, 20, and 30 min. Parents and clinician satisfaction score was asked. All data were analyzed using the Statistical Package for the Social Sciences (SPSS) software by t test and chi-square test. RESULTS: Decreasing in MBP and HR was higher in DEX group than MID group (P < 0.001), whereas decrease of O2Sat in MID group was higher than DEX group (0.009). Starting time of sedation (22.72 ± 11.64 vs. 33.38 ± 10.17, P = 0.001) was lower in DEX group. Parents (P < 0.001) and physician (P < 0.001) satisfaction score was higher in DEX group than the MID group. CONCLUSION: Using 3 µg/kg intranasal DEX for sedation of 1-6-year-old children was a suitable method to undergo noninvasive studies such as CT imaging. Intranasal DEX is superior to MID due to higher sedation satisfactory, faster starting effect of sedation, and lower side effects and complications. Nevertheless, in children with hemodynamic instability DEX is not an appropriate choice.

Comparing the Sensitivity and Specificity of Two-Dimensional Shear Wave Elastography and Fine Needle Aspiration in Determining Malignant Thyroid Nodules.

BACKGROUND: Malignancy in thyroid nodules is a common clinical problem, and epidemiological studies have shown that it is increasing. Since malignancy is a very important problem in treating patients and misdiagnosis leads to many physical and financial damages, the importance of diagnostic methods becomes more important. Hence, the aim of this study was to investigate the sensitivity and specificity of the two dimensional-shear wave elastography (2D-SWE) diagnostic method in comparison with fine-needle aspiration (FNA) in determining the malignant thyroid nodules. MATERIALS AND METHODS: This study is cross-sectional which was performed on 57 thyroid nodules are proven by conventional ultrasound. Afterward, 2D-SWE images were taken with the help of a superSonic ultrasound machine. Then, FNA was performed from the thyroid nodules and the specimens were evaluated in a single specialized thyroid pathology center. The results of conventional sonography and 2D-SWE were compared with histopathologic results as a gold standard method. The elasticity quantity was recorded by measuring the amount of the appropriate quantities by a recording machine and analyzed using the SPSS and MedCalc software. RESULTS: From 57 nodules studied, 50 nodules were evaluated with benign diagnosis and 7 nodules with the malignant diagnosis. Among all the parameters recorded by the machine, SWE. ratio provided the highest surface area under the curve and the highest sensitivity and specificity with 0.94, 100% and 84%, respectively, and a cut-off point of 1.7. CONCLUSION: The 2D-SWE method and the conventional ultrasound can be good references for decision making about with the thyroid nodules.

Two unusual sites of cystic lymphangioma in a child: A report of imaging profile with surgical and histopathologic findings.

Cystic lymphangioma (CL) is a benign lymphatic malformation mostly seen in the head and neck of neonates and infants. Abdominal CL is an unusual entity which may present in omentum, mesentery, abdominal wall, or solid organs. The authors present an unusual case with two separate abdominal cystic lymphangiomas.