Virtual reality and augmented reality as strategies for teaching social skills to individuals with intellectual disability: A systematic review.

Virtual reality (VR) and augmented reality (AR) programs have proliferated significantly in recent years and they are finding their way into different educational and therapeutic purposes. This systematic review aims at analyzing the virtual reality and augmented reality programs designed to promote the development of social skills in individuals with intellectual disability. Searches were carried out in the Scopus, Science Direct, Springer and Web of Science databases in the period from 2005 to 2020. A total of six articles met the inclusion criteria. A descriptive data analysis was performed. The results show that the clinical profile of the individuals who participated in the interventions is diverse. It can be concluded that there is some scientific evidence that points to the usefulness of VR and AR in the development of intervention programs to improve the social skills of individuals diagnosed with developmental deficits. However, it is necessary to acknowledge methodological limitations such as the lack of control groups, follow-up measures and of generalization of the results.

Imaging Markers of Post-Stroke Depression and Apathy: a Systematic Review and Meta-Analysis.

Several brain imaging markers have been studied in the development of post-stroke depression (PSD) and post-stroke apathy (PSA), but inconsistent associations have been reported. This systematic review and meta-analysis aims to provide a comprehensive and up-to-date evaluation of imaging markers associated with PSD and PSA. Databases (Medline, Embase, PsycINFO, CINAHL, and Cochrane Database of Systematic Reviews) were searched from inception to July 21, 2016. Observational studies describing imaging markers of PSD and PSA were included. Pooled odds ratios (OR) and 95% confidence intervals (CI) were calculated to examine the association between PSD or PSA and stroke lesion laterality, type, and location, also stratified by study phase (acute, post-acute, chronic). Other imaging markers were reviewed qualitatively. The search retrieved 4502 studies, of which 149 studies were included in the review and 86 studies in the meta-analyses. PSD in the post-acute stroke phase was significantly associated with frontal (OR 1.72, 95% CI 1.34-2.19) and basal ganglia lesions (OR 2.25, 95% CI 1.33-3.84). Hemorrhagic stroke related to higher odds for PSA in the acute phase (OR 2.58, 95% CI 1.18-5.65), whereas ischemic stroke related to higher odds for PSA in the post-acute phase (OR 0.20, 95% CI 0.06-0.69). Frequency of PSD and PSA is modestly associated with stroke type and location and is dependent on stroke phase. These findings have to be taken into consideration for stroke rehabilitation programs, as this could prevent stroke patients from developing PSD and PSA, resulting in better clinical outcome.

Longitudinal patterns of urine biomarkers in infants across gestational ages.

BACKGROUND: Urinary biomarkers may be indicators of acute kidney injury (AKI), although little is known of their developmental characteristics in healthy neonates across a full range of gestational age (GA). The purpose of this study was to examine patterns of urinary biomarkers across GA groups from birth to 3 months of age. METHODS: Fifty-two infants ranging from 24 to 41 weeks' GA had urine assayed from birth through 3 months of age for 7 biomarkers including albumin (ALB), beta-2-microglobulin (B2M), cystatin-C (CysC), epidermal growth factor (EGF), neutrophil-gelatinase-associated lipocalin (NGAL), osteopontin (OPN), and uromodulin (UMOD). RESULTS: Of the seven urinary biomarkers, EGF and UMOD increased while others decreased with advancing GA. By 3 months of age, EGF and UMOD had increased in preterm infants to levels similar to those of term infants. UMOD/ml and EGF/ml appeared to be predominantly developmental biomarkers distinguishing estimated glomerular filtration rate (GFR) <30 ml/min/1.73 m(2) with receiver operator characteristic area under the curve (ROC-AUC) of 0.82; p = 0.002. When factored by urine creatinine CysC/cr + ALB/cr were the most significant functional markers with AUC = 0.79; p = 0.004; sensitivity 96 %; specificity 58 %. CONCLUSIONS: Among healthy neonates, urinary biomarkers vary with GA. These data support the use of urinary biomarkers in the assessment of normal kidney development in the absence of injury.

Renal medullary carcinoma and sickle cell trait: A systematic review.

Sickle cell trait (SCT) carries a small risk of renal medullary carcinoma (RMC). We conducted a systematic literature review and reported new four RMC cases (total N = 217). Eighty eight percent had SCT and 8% had sickle cell disease; 50% were children. Males had 2.4× risk than females. Isolated hematuria or in combination with abdominal or flank pain was the presenting sign in 66% cases. Tumor-related mortality was 95%. Four non-metastatic patients were long-term disease-free survivors. Although risk appears to be very low, individuals with SCT should be informed about the low risk of RMC with the hope of early diagnosis. Hematuria should prompt immediate investigation.

Myosin 5b loss of function leads to defects in polarized signaling: implication for microvillus inclusion disease pathogenesis and treatment.

Microvillus inclusion disease (MVID) is an autosomal recessive condition resulting in intractable secretory diarrhea in newborns due to loss-of-function mutations in myosin Vb (Myo5b). Previous work suggested that the apical recycling endosomal (ARE) compartment is the primary location for phosphoinositide-dependent protein kinase 1 (PDK1) signaling. Because the ARE is disrupted in MVID, we tested the hypothesis that polarized signaling is affected by Myo5b dysfunction. Subcellular distribution of PDK1 was analyzed in human enterocytes from MVID/control patients by immunocytochemistry. Using Myo5b knockdown (kd) in Caco-2BBe cells, we studied phosphorylated kinases downstream of PDK1, electrophysiological parameters, and net water flux. PDK1 was aberrantly localized in human MVID enterocytes and Myo5b-deficient Caco-2BBe cells. Two PDK1 target kinases were differentially affected: phosphorylated atypical protein kinase C (aPKC) increased fivefold and phosohoprotein kinase B slightly decreased compared with control. PDK1 redistributed to a soluble (cytosolic) fraction and copurified with basolateral endosomes in Myo5b kd. Myo5b kd cells showed a decrease in net water absorption that could be reverted with PDK1 inhibitors. We conclude that, in addition to altered apical expression of ion transporters, depolarization of PDK1 in MVID enterocytes may lead to aberrant activation of downstream kinases such as aPKC. The findings in this work suggest that PDK1-dependent signaling may provide a therapeutic target for treating MVID.

Congenital Anomalies of the Kidney and the Urinary Tract (CAKUT).

This article reviews the majority of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) with emphasis in Pediatric Pathology describing and illustrating lesions as varied as ureteral duplications, ureteropelvic junction obstruction, horseshoe kidney, posterior urethral valve and prune belly syndrome, obstructive renal dysplasia, nonmotile ciliopathies and several syndromes associated with renal malformations (Meckel-Joubert, short rib, Bardet-Biedl, asplenia/polysplenia, hereditary renal adysplasia, Zellweger, trisomies, VACTER-L, Potter, caudal dysplasia, and sirenomelia), as well as ADPK, and ARPK. The purpose of this review is not only to describe the congenital renal anomalies, but also to analyze the more recent therapeutic interventions that may modify the natural history of some of these severe conditions.

Twin infant with lymphatic dysplasia diagnosed with Noonan syndrome by molecular genetic testing.

Noonan Syndrome is an autosomal dominant disorder characterized by short stature, congenital heart defects, developmental delay, dysmorphic facial features and occasional lymphatic dysplasias. The features of Noonan Syndrome change with age and have variable expression. The diagnosis has historically been based on clinical grounds. We describe a child that was born with congenital refractory chylothorax and subcutaneous edema suspected to be secondary to pulmonary lymphangiectasis. The infant died of respiratory failure and anasarca at 80 days. The autopsy confirmed lymphatic dysplasia in lungs and mesentery. The baby had no dysmorphic facial features and was diagnosed postmortem with Noonan syndrome by genomic DNA sequence analysis as he had a heterozygous mutation for G503R in the PTPN11 gene.

Osteogenesis imperfecta due to compound heterozygosity for the LEPRE1 gene.

Osteogenesis imperfecta is a rare connective tissue disorder characterized by bone fragility and low bone density. Most cases are caused by an autosomal dominant mutation in either COL1A1 or COL1A2 gene encoding type I collagen. However, autosomal recessive forms have been identified. We present a patient with severe respiratory distress due to osteogenesis imperfecta simulating type II, born to a non-consanguineous couple with mixed African-American and African-Hispanic ethnicity. Cultured skin fibroblasts demonstrated compound heterozygosity for mutations in the LEPRE1 gene encoding prolyl 3-hydroxylase 1 confirming the diagnosis of autosomal recessive osteogenesis imperfecta type VIII, perinatal lethal type.

Gender differences in pain severity, disability, depression, and widespread pressure pain sensitivity in patients with fibromyalgia syndrome without comorbid conditions.

OBJECTIVES: To determine the differences in pain, disability, depression, and pressure sensitivity between men and women with fibromyalgia syndrome (FMS), and to analyze the relationship between pain and pressure sensitivity in FMS. DESIGN: A cross-sectional study. SETTING: Gender differences in pain sensitivity in individuals with FMS have not been yet clarified. PATIENTS: Twenty-four men (age: 52 ± 6 years) and 24 age-matched women (age: 52 ± 5 years) with FMS diagnosed according to 1990 American College of Rheumatology criteria participated. OUTCOME MEASURES: Pressure pain thresholds (PPTs) over the 18 tender points and over the second metacarpal and tibialis anterior muscle were assessed. The intensity and duration of pain, tender point count, the Fibromyalgia Impact Questionnaire, and depression (Beck Depression Inventory-II) were calculated. RESULTS: Women reported higher intensity of pain, tender point count, and depression than men (P < 0.01). Men reported a longer history of pain and disability than women (P = 0.005). Women showed bilateral lower PPT over suboccipital, cervical spine, second rib, supraspinatus, lateral epicondyle, gluteal region, and second metacarpal than men (P < 0.05). Negative associations between tender point count and PPT were found in men and women. In men, negative correlations between the intensity of ongoing pain and PPT over the cervical spine were found. No significant association between PPT and other clinical outcome was seen. CONCLUSIONS: Women with FMS showed higher pain severity and lower PPT than men, whereas men exhibited longer duration of symptoms and disability. In men with FMS, the intensity of ongoing pain was positively correlated to pressure hyperalgesia over the neck. This study suggests that FMS could show a different phenotype in women and men and confirm that women exhibit lower PPT than men.

Influential Factors of Breastfeeding after Assisted Reproduction: A Spanish Cohort.

The impact of assisted reproduction techniques (ART) when starting to breastfeed is an important issue that has been sparsely addressed in scientific literature and yet has contradictory results. This study aims to determine the relation between the mode of fertilization and breastfeeding by means of a retrospective longitudinal cohort study that included newborns and mothers who gave birth between 2012 and 2019 in a third-level regional hospital. Data were collected from a total of 11,285 women and newborns, of which 302 (2.6%) used ART. Logistic regression was used to establish models that determine the administration of exclusive breastfeeding (BF). Among the 1208 analyzed participants, 30% conceived using fertility treatment. In this group of participants, BF was less prevalent, both in the delivery room (25.8% versus 45.5%; p < 0.001) and when discharged from hospital (42.1% versus 57.9%; p < 0.001). Healthy newborns and BF in the delivery room were predictors of BF when discharged. On the other hand, the use of ART, an Apgar score lower than 7 at birth, the use of an epidural and a premature or underweight baby are considered negative predictors of exclusive BF when discharged. It is necessary to offer greater support for all mothers regarding BF, especially those who have conceived through ART, even more so in those cases that involve an epidural and/or caesarean section, starting throughout the dilation process.

Connective tissue growth factor antibody therapy attenuates hyperoxia-induced lung injury in neonatal rats.

Despite recent advances in neonatal intensive care and surfactant therapy, bronchopulmonary dysplasia (BPD) continues to be one of the most common long-term pulmonary complications associated with preterm birth. Clinical efforts to prevent and treat BPD have been largely unsuccessful due to its multifactorial nature and poorly understood disease process. Connective tissue growth factor (CTGF) is a matricellular protein that plays an important role in tissue development and remodeling. Previous studies have demonstrated that hyperoxia exposure up-regulates CTGF expression in neonatal rat lungs. Whether CTGF overexpression plays a role in the pathogenesis of BPD, and whether CTGF antagonism has a therapeutic potential for BPD, are unknown. In the present study, we examined CTGF expression in lung autopsy specimens from patients with BPD and control subjects with no BPD. We assessed the effect of a CTGF-neutralizing monoclonal antibody (CTGF Ab) on preventing hyperoxia-induced lung injury in neonatal rats. Our study demonstrates that CTGF expression is increased in BPD lungs. In newborn rats, exposure to 90% oxygen for 14 days resulted in activation of ß-catenin signaling, decreased alveolarization and vascular development, and physiological and histological evidence of pulmonary hypertension (PH). However, treatment with CTGF Ab prevented ß-catenin signaling activation, improved alveolarization and vascular development, and attenuated PH during hyperoxia. These data indicate that CTGF-ß-catenin signaling plays a critical role in the pathogenesis of experimental BPD. CTGF antagonism may offer a novel therapeutic strategy to alleviate BPD and PH in neonates.

Long-term risk of chronic kidney disease in unilateral multicystic dysplastic kidney.

The clinical spectrum of renal dysplasia includes the non-functioning multicystic dysplastic kidney (MCDK). We report our experience of the outcome of unilateral MCDK and its contralateral kidney in 101 children with the diagnosis of MCDK from 1985 to 2009. Data collected included urine protein/creatinine ratio, estimated GFR (eGFR), blood pressure, surgical intervention, renal length and abnormalities of the contralateral kidney, and the involution rate. There was a predominance of left-sided MCDK. Diagnosis was made prenatally in 86.7%. Contralateral abnormalities included vesicoureteral reflux (16.8%), UPJ obstruction (4.1%), and megaureter (2.4%). Complete involution of MCDK occurred within 5 years in 60%. Compensatory hypertrophy of the contralateral kidney to >97% occurred in 74.1%. Nephrectomy was performed in 19.8%. There was an increased risk of chronic kidney disease (CKD) stage ≥ 2, and hypertension in those with contralateral abnormalities (p<0.0001; p<0.001 respectively). In those without contralateral abnormalities, hyperfiltration with mean eGFR of 149 ± 13 ml/min/1.73 m(2) was seen in 32% and proteinuria in 9.8%. There was a significantly inverse relationship between proteinuria and eGFR (p<0.0001). In conclusion, children with contralateral abnormalities are at risk for developing decreased kidney function, whereas a substantial number of patients with no obvious contralateral abnormalities have markers of renal injury. Therefore, systematic follow-up of all patients is recommended.

Comparative immunohistochemical study of multicystic dysplastic kidneys with and without obstruction.

Etiology of multicystic dysplastic kidney (MCDK) remains unknown. Not all cases are associated with obstruction. We compared by immunohistochemistry 17 cases of MCDK (10 cases with and seven without obstruction) to 17 controls and 20 fetal kidneys. TGF-ß was negative in obstructive MCDKs and positive in nonobstructive MCDK. IGF2 was overexpressed in obstructive and underexpressed in nonobstructive MCDKs. PAX2, BCL-2, and ß-catenin were expressed equally in obstructive and nonobstructive dysplasia. TGF-ß and IGF2 work by different mechanisms in obstructive and nonobstructive MCDKs, but there are no differences among PAX 2, BCL-2, and ß-catenin in obstructive versus nonobstructive dysplasia.

Differential changes in TGF-ß/BMP signaling pathway in the right ventricular myocardium of newborns with hypoplastic left heart syndrome.

BACKGROUND: Hypoplastic left heart syndrome (HLHS) is characterized by underdevelopment of the left ventricle (LV) and increased biomechanical stress on the right ventricle (RV) from single ventricle physiology. Despite the clinical significance, the signaling pathways active during RV remodeling and disease progression are not known. To address this, we examined differential changes in expression of genes associated with transforming growth factor-beta (TGF-beta)/bone morphogenetic protein (BMP) signaling in RV tissue isolated from HLHS patients relative to RV and LV tissue from control subjects. METHODS AND RESULTS: Quantitative real-time polymerase chain reaction was used to detect changes in expression of 84 genes involved in TGF-beta/BMP-mediated cardiac development, cell growth, and differentiation in RV tissue collected from 6 neonates with HLHS undergoing stage 1 Norwood procedure (age, 1-7 days; mean, 4 days) and RV and LV tissue obtained from 5 infants with noncardiac pathology (age range, 1-135 days: mean, 85 days) that served as controls. Analysis of gene expression profiles between control-LV and control-RV revealed significant depression of TGF-beta/BMP signaling in RV compared with LV. Of the 84 genes analyzed, 38 were differentially expressed between HLHS-RV and control-RV, whereas only 22 compared with control-LV. Significant changes were observed in: tissue remodeling genes including Activin receptor type IIA (ACVR2A) (+2.13) and Activin receptor-like kinase 1 (ACVRL1) (+2.22); and cell survival, growth, and differentiation genes including CDC25A (+2.18), p21 (-3.64), p15 (+2.15), BMP5 (+4.58), BMP3 (+2.16), GDF3 (+8.59), NODAL (+2.32), and BMP binding endothelial regulator (BMPER) (+4.58). The most significant changes common to HLHS-RV versus control-RV and control-LV sample groups is observed for Anti müllerian hormone receptor 2 (AMHR2) (+18.79 control-RV, +3.38 control-LV), and the BMP antagonist Inhibin alpha (INHA) (+11.47 control-RV, +5.73 control-LV). CONCLUSIONS: Although this descriptive study does not allow cause-effect inferences, our results suggest changes in cardiac development pathways and upregulation of genes associated with cell growth and differentiation in the neonatal RV of children with HLHS. These molecular profiles are more closely related to those observed in the normal LV rather than normal RV at similar maturational age. This work provides the basis for future mechanistic studies to elucidate the molecular mechanisms regulating RV remodeling in HLHS.

Incidence and outcomes of extremity soft-tissue sarcomas in children.

BACKGROUND: We studied the outcomes of pediatric extremity tumors on a population scale. METHODS: The Surveillance, Epidemiology, and End Results database (1973-2006) was queried for all patients under 20 y of age. RESULTS: Overall, 1175 patients were identified. The median age at diagnosis was 12 y, but most patients were ≥10 y of age (72%, n = 842). Most tumors were non-rhabdomyosarcoma soft tissue sarcomas (NRSTS) (79%, n = 879). The most common tissue of origin was muscle (43%, n = 474). Most rhabdomyosarcoma (RMS) (n = 220) were alveolar type (n = 140). Most patients presented with local disease (64%, n = 699), and underwent surgical intervention (88%, n = 1027), but did not have radiotherapy (62%, n = 710). RMS was more likely to present in younger children (P < 0.001) and with distant disease (P < 0.001). Older patients were more likely to receive radiotherapy than infants (P < 0.001). Overall 5-y survival was 79%. RMS had significantly worse 5-y survival (56% versus 85% for NRSTS, P < 0.001). Surgical intervention was associated with higher 5-y survival (84% versus 48%, P < 0.001). Radiotherapy was associated with worse 5-y survival (74% versus 83%, P = 0.002). Multivariate analysis identified RMS (HR 2.20, P < 0.001), nerve and muscle (not synovial sarcoma) tissue of origin (HR 2.26, P = 0.002, and HR 1.59, P = 0.036), regional or distant disease (HR 1.65, P = 0.011, and HR 5.96, P < 0.001, respectively), and lack of surgical intervention (HR 2.20, P < 0.001) as independent predictors of poor outcome. CONCLUSIONS: Extremity sarcomas are most common in older children. RMS is more common in younger children, but is associated with lower survival, and is an independent prognostic indicator of mortality.

Intestinal candidiasis: an uncommon cause of necrotizing enterocolitis (NEC) in neonates.

Candida albicans produces intestinal perforation and necrotizing enterocolitis (NEC) in preterm newborns. We reviewed pathology files in neonates with a diagnosis of NEC (10-year period), gathered history, and reviewed histological materials. Of 249 autopsies, two (0.8%) had systemic candidiasis. From 66 surgical cases with a diagnosis of NEC, five cases (7.5%) had intestinal candidiasis. Candida albicans grew in pre- and post-mortem blood, lung, or peritoneal fluid in all cases. Histologically, the small bowel revealed fungi, sometimes intravascular. Systemic candidiasis with intestinal involvement is an important complication of prematurity and a prevalent cause of sepsis. The presence of intraluminal fungi with associated vascular occlusion may lead to bowel ischemia, necrosis, and perforation.

Reversal of Resistance to the Larvicide Temephos in an Aedes aegypti (Diptera: Culicidae) Laboratory Strain From Cuba.

The objective of this investigation was to know whether the organophosphate temephos resistance developed in larvae from a laboratory strain of Aedes aegypti (Linnaeus, 1762) from Cuba could be reversed. The resistant laboratory strain of Ae. aegypti, named SAN-F6, was left without temephos selection pressure for 12 generations. The level of temephos resistance was determined using WHO bioassays and mechanisms of metabolic resistance were determined based on enzyme activity levels detected by biochemical assays. Bioassays and biochemical assays were conducted on the SAN-F6 parental strain and every three reversal generations (SANRevF3, SANRevF6, SANRevF9, and SANRevF12) without temephos selection pressure. After 19 yr of keeping the SAN-F6 strain under selection pressure with the LC90 of temephos, the resistance ratio (RR50) was 47.5×. Biochemical assays indicated that esterase and glutathione S-transferase are still responsible for temephos resistance in this strain, but not mixed-function oxidase. Experiments on resistance reversal showed that temephos susceptibility could be recovered as α esterase activity levels decreased. The SAN-F6 strain has provided an essential basis for studies of temephos resistance in Cuba. It was demonstrated that the resistance developed to the larvicide temephos in Ae. aegypti from this Cuban lab strain is a reversible phenomenon, which suggests that similar outcomes might be expected in field populations. As such, the use of temephos alternated with other larvicides recommended by WHO such as Bti or pyriproxyfen is recommended to maintain the effectiveness of temephos and to achieve more effective control of Ae. aegypti.

Diagnostic utility of SALL4 in primary germ cell tumors of the central nervous system: a study of 77 cases.

Primary germ cell tumors of the central nervous system (CNS) sometimes pose diagnostic difficulty. In this study we analyzed the diagnostic utility of a novel marker, SALL4, in 77 such tumors (59 pure and 18 mixed) consisting of the following tumors/tumor components: 49 germinomas, 7 embryonal carcinomas, 27 yolk sac tumors, 3 choriocarcinomas, and 14 teratomas. We also stained SALL4 in 99 primary non-germ cell tumors to test SALL4 specificity. We compared SALL4 with OCT4 in all germ cell tumors and compared SALL4 with alpha-fetoprotein and glypican-3 in all yolk sac tumors. The staining was semiquantitatively scored as 0 (no staining), 1+ (90%). Strong SALL4 staining was observed in all 49 germinomas (4+ in 48, 3+ in 1), 7 embryonal carcinomas (all 4+), and 27 yolk sac tumors (1+ in 1, 2+ in 2, 3+ in 7, 4+ in 17). SALL4 staining, 1+ weak to focally strong, was observed in 2 of 3 choriocarcinomas (in mononucleated trophoblasts) and in 9 of 14 teratomas (in primitive neuroepithelium and teratomatous glands). All germinomas and embryonal carcinomas showed strong OCT4 staining (4+ in all except 1 germinoma with 3+), whereas other germ cell tumors were negative. Out of 27 yolk sac tumors, 26 showed positive alpha-fetoprotein staining (1+ in 9, 2+ in 7, 3+ in 5, and 4+ in 5). All yolk sac tumors showed positive glypican-3 staining (1+ in 6, 2+ in 6, 3+ in 7, and 4+ in 8). The mean percentage of yolk sac tumor cells stained was 84% with SALL4, 45% with alpha-fetoprotein, and 63% with glypican-3 (P<0.01). No non-germ cell tumors showed SALL4 staining. Our results indicate that SALL4 is a novel sensitive diagnostic marker for primary germ cell tumors of the CNS with high specificity. SALL4 is a more sensitive marker than alpha-fetoprotein and glypican-3 for yolk sac tumors.

Obesity and preterm birth: additive risks in the progression of kidney disease in children.

Preterm birth is associated with decreased nephron mass and obesity that may impact on kidney disease progression in later life. Our objectives were to examine the relative risks of obesity and preterm birth on the progression of kidney disease in children. In a retrospective cohort study, 80 (44 obese and 36 non-obese) patients with proteinuric kidney disease were studied for disease progression and glomerular histomorphometry. Of the obese, 22 had been born at term (Obese-T) and 22 had been preterm (Obese-PT). Seventeen non-obese children with focal glomerular sclerosis, born at term (NO-FSGS), and 19 non-obese preterm (NO-PT) children, served as controls. Insulin resistance as measured by the homeostatic model assessment (HOMA-IR) was elevated in all obese children. Obese-PT patients had increased risk of renal demise during childhood when compared with Obese-T children [hazard ratio 2.4; 95% Confidence interval (95% CI) 1.1 to 7.1; P = 0.04]. In obese children, although proteinuria often exceeded nephrotic range, average levels of serum albumin remained normal. Preterm patients were more likely to have reduced renal mass (odds ratio 4.7; P = 0.006), but obesity was not a factor. Renal histomorphometry showed glomerulomegaly in obese patients, regardless of birth weight. Obesity and preterm birth appear to impose additive risks for progression of kidney disease in childhood.

Caudal dysplasia syndrome and sirenomelia: are they part of a spectrum?

Caudal dysplasia syndrome (CDS) is associated with hypoplastic lower extremities, caudal vertebrae, sacrum, neural tube, and urogenital organs. Sirenomelia is characterized by a single lower extremity, absent sacrum, urogenital anomalies, and imperforate anus. There is controversy in the medical literature about whether sirenomelia and CDS are part of the spectrum of the same malformation. Patients with CDS and sirenomelia were identified from our pathology files from 1991 to 2006. Maternal history, pathologic examination, and radiographs were collected and tabulated. We found 9 cases with CDS and 6 with sirenomelia. Fully 7 of 9 patients with CDS (77.7%) versus none of sirenomelic babies were infants of diabetic mothers. Congenital heart disease was present in 5 patients with CDS (55.5%) and none of the infants with sirenomelia. Of 9 children with CDS 2 (22.2%) had bilateral renal agenesis versus 66% of sirenomelics. Single umbilical artery was found in 33% of cases with CDS and 100% of children with sirenomelia. External genitalia were ambiguous in 2 of 9 patients (22.2%) with CDS and in all patients with sirenomelia. Imperforate anus was found in 10 cases (66.6%) divided as 4 of 9 babies with CDS (44.4%) and all patients with sirenomelia. Three patients with CDS had concomitant maternal diabetes mellitus and chronic hypertension. These babies also had cleft lip and palate. Congenital heart disease was found in 55.5% of cases with CDS and none of the children with sirenomelia. We conclude that although CDS and sirenomelia share many similar features, they are two different entities.