Rapadilino syndrome

We report on a boy with severe radial hypoplasia, absent thumbs and patellae, short stature, persistent diarrhea, slender nose and normal intelligence as another example of the RAPADILINO syndrome. © 1992 Wiley-Liss, Inc.     

Diagnostic accuracy of fetal renal pelvis anteroposterior diameter as a predictor of uropathy: a prospective study.

OBJECTIVE: The purpose of this study was to assess the accuracy of prenatal ultrasound measurement of anteroposterior renal pelvis diameter (APD) to discriminate between significant uropathy and idiopathic renal pelvis dilatation. METHODS: One-hundred-and-three neonates who were found to have fetal renal pelvis dilatation, defined as presence of an APD > or = 5 mm, underwent systematic investigation for uropathies and were prospectively followed. An ultrasound scan was performed after the first week of postnatal life and all infants underwent a voiding cystourethrogram. Neonates with an APD larger than 10 mm underwent renal scintigraphy. Ultrasound scans, clinical examination and laboratory reviews were scheduled at 6-month intervals. Receiver-operating characteristics (ROC) curves were constructed to determine the best cut-offs for APD to identify renal units with significant uropathy as well as those requiring surgical intervention. Significant uropathy was defined as the presence of well-established urinary tract abnormalities or when there was abnormal renal scintigraphy. RESULTS: The estimated area under the curve for APD was 0.900 (95% CI, 0.841-0.942) indicating excellent power to discriminate between idiopathic pelvis dilatation and significant uropathy. The sensitivity and specificity for the 7.5 mm cut-off point were 97.9% and 40.6%, respectively. To identify infants who required surgical intervention, the calculated area under the curve was 0.953 (95% CI, 0.908-0.980). CONCLUSION: Our results suggest that measurement of APD is an excellent test to identify fetuses with significant uropathy, as well as those requiring postnatal intervention.     

Jararhagin, a snake venom metalloproteinase-disintegrin, stimulates epithelial cell migration in an in vitro restitution model

The snake venom metalloproteinase-disintegrin jararhagin (JG) has no chemotactic activity but stimulates the migration of neutrophils in vivo through a mechanism still unclear. In this study we investigated the effects of jararhagin on epithelial cell adhesion and migration in vitro. F-actin arrangement and the distribution of laminin, fibronectin, several integrins and phosphorylated Focal Adhesion Kinase (FAK) were studied using rhodamine–phalloidin and immunofluorescence. Maximum stimulation of migration (about 100%) was obtained with 5 μg/ml JG, with about 38% inhibition of cellular adhesion. In migratory cells the toxin stimulated the formation of filopodia, lamellipodia and stress fibers. The pericellular fibronectin matrix was lost in migrating cells, while laminin was less affected. The toxin stimulated FAK phosphorylation and the recruitment of v-containing integrins to focal contacts, whereas integrins containing the 2 subunit were reduced in these junctions. Inactivation of the toxin with 1,10 phenanthroline showed that the catalytic activity is important for the effect of jararhagin on cell migration, FAK phosphorylation and for the recruitment of v, but not as much for the anti-adhesive effect. In conclusion, jararhagin stimulates the migration of epithelial cells in vitro through a mechanism that involves its proteolytic activity, qualitative changes in cellular adhesion and the formation of actin-rich cellular processes.     

Heart rate variability,exercise capacity and levels of daily physical activity in children and adolescents with mild-to-moderate cystic fibrosis

Background:Autonomic nervous system balance is altered in cystic fibrosis (CF), although its influence on physical fitness has been poorly explored.Objective:This study aimed to evaluate the association of heart rate variability (HRV) with exercise capacity and levels of daily physical activity in children and adolescents with mild-to-moderate CF.Methods:A cross-sectional study including individuals with CF aged 6–18 years, not under CFTR modulator therapy, was performed. Sociodemographic (age, sex) and clinical information (airway colonization, pancreatic insufficiency, and genotyping) were collected. In addition, exercise capacity (modified shuttle test — MST), lung function (spirometry), body composition (bioimpedance), levels of daily physical activity (5-day accelerometer), and HRV (both at rest and during the MST) were evaluated.Results:30 individuals (20 females) aged 11.2±3.7 years, mean FEV162.8±27.6%, were included. A sympathovagal balance (LF/HF) increase (p<0.001) during the MST was shown, indicating a predominance of sympathetic modulation. The standard deviation of all RR intervals (SDNN) and the high frequency (HF) index during exercise correlated significantly with FEV₁ (r=0.45, p=0.01 and r=0.46, p=0.01; respectively). MST distance also correlated positively and significantly with SDNN (r=0.43, p=0.01), square root of the mean of the sums of squares of frequencies between RR intervals greater than 50 ms — RMSSD (r=0.53, p<0.01), low frequency — LF (r=0.48, p<0.01), HF (r=0.64, p<0.01), dispersion of points perpendicular to the short-term identity line — SD1 (r=0.40, p=0.02) and negatively with LF/HF (r=−0.57, p<0.01). Regarding daily physical activity, SDNN at rest (r=0.37, p=0.04) and exercise (r=0.41, p=0.02) showed positive correlations with time in moderate-to-vigorous activities. When normalizing the SDNN and classifying individuals as normal or altered, those presenting altered SDNN showed poorest FEV₁ (p=0.001) and lower exercise capacity (p=0.027).Conclusion:HRV correlates with lung function, exercise capacity and levels of daily physical activity in children and adolescents with CF. The study highlights the influence of CF on autonomic function and suggests HRV measurement as an easy tool to be used in clinical settings as an alternative marker to monitor CF individuals.     

Revisiting serum thyroglobulin in the follow-up of patients with differentiated thyroid carcinoma

This study analyzed serum thyroglobulin (Tg) during hypothyroidism in 207 patients with differentiated thyroid carcinoma treated with total thyroidectomy and radioiodine ablation and undetectable anti-Tg antibodies. Disease staging was defined by clinical examination, stimulated Tg, pre- and post-ablative radioiodine scanning, and other imaging methods (X-Ray, US, CT and MIBI-scan). The average interval from initial therapy was 2.3 years. 153 patients (74%) had no evident disease, 34 (16.4%) presented neck/mediastinal disease, and 20 (9.6%) had distant metastases (Mt). The best cut-off for Tg was 1 ng/ml, showing 100% sensitivity for distant Mt and 88.2% for local recurrence or lymph node Mt, and 88.8% specificity for any Mt and 74.8% for distant Mt. In patients with Tg <1 ng/ml, 2.8% showed cervical lymph nodes Mt. Cervical or mediastinal disease were 26% of cases with Tg between 1 and 5 ng/ml. Tg from 5 to 10 ng/ml was associated to distant Mt in 14.2% of the cases and others showed lymph nodes Mt. In patients with Tg >10 ng/ml, 51.3% presented distant Mt. We suggest the need for neck US even in cases with Tg <1 ng/ml. In addition, patients with Tg levels <5 ng/ml should be investigated by neck US and mediastinal CT only, and empirical therapy should be limited to patients with a minimum Tg level >5 ng/ml.     

Chronic Pain and Psychological Distress Among Undocumented Latinx Immigrants in the USA

BackgroundUndocumented immigration is often accompanied by multiple and complex stressors, which over time may increase the risk for chronic pain.ObjectiveThis study aimed to identify the prevalence of chronic pain and its association with psychological distress among undocumented Latinx immigrants in the USA.Design/ParticipantsWe used respondent-driven sampling to collect and analyze data from clinical interviews with 254 undocumented Latinx immigrants, enabling inference to a population of 22,000.Main MeasuresChronic pain was assessed using the World Health Organization Composite International Diagnostic Interview (CIDI) Chronic Conditions Module. For all analyses, inferential statistics accounted for design effects and sample weights to produce weighted estimates. We conducted logistic regression analyses to assess the association between chronic pain and psychological distress after controlling for age, years in the USA, and history of trauma.ResultsA total of 28% of undocumented Latinx immigrants reported having chronic pain, and 20% of those had clinically significant psychological distress. Significant differences in the prevalence of chronic pain were reported across age groups, years in the USA, and trauma history. After controlling for relevant covariates, chronic pain was significantly associated with psychological distress (OR = 1.06, 95% CI [1.02, 1.09]), age (OR = 1.05, 95% CI [1.02; 1.09]), and history of trauma (OR = 1.10 per additional traumatic event, 95% CI [1.02; 1.19]; C-statistic = 0.79).ConclusionAmong undocumented Latinx immigrants, chronic pain is significantly associated with psychological distress, older age, and trauma history. Given that undocumented immigrants have restricted access to healthcare and are at high risk for chronic pain, developing alternatives to facilitate access to chronic pain interventions and risk-reduction prevention are needed.KEY WORDS: chronic pain, distress, mental health, undocumented immigrants, Latinx

Chronic pain is a global health concern associated with detrimental pathophysiological, functional, economic, and social consequences.¹ Chronic pain is generally defined as continuous or intermittent pain or discomfort that persists for at least 3 months.² Approximately 1.5 billion people live with chronic pain worldwide, with US national estimates exceeding 100 million.³ Furthermore, in the USA, racial/ethnic disparities exist with regards to experiencing chronic pain.¹ For instance, Latinxs tend to report a lower prevalence of chronic pain and less pain interference with daily functioning when compared with non-Latinx whites, but greater pain severity.⁴ Likewise, disparities between these groups exist in accessing, seeking, and responding to treatment for pain.⁴ Nonetheless, less is known about the prevalence of pain and the pain experience among Latinxs who are hidden or hard-to-reach, such as undocumented immigrants.The undocumented immigration path is often accompanied by multiple and complex stressors, which over time may increase the risk for chronic pain. Hazardous working conditions, limited healthcare access, exploitation, and stigmatization are factors that could make undocumented immigrants vulnerable to chronic pain. For instance, undocumented immigrants are more likely than their documented counterparts to undertake physically demanding jobs in industries with high rates of injuries and exposure to hazardous conditions.^5–7 Non-job-related trauma is another cause of pain in immigrants^8,9—approximately 83% of undocumented immigrants report a lifetime history of trauma.¹⁰ Compounding these problems, limited healthcare access and lack of insurance force immigrants to pay out of pocket for healthcare; turn to unsafe or non-evidence-based healing practices (e.g., herbal remedies, hueseros, or bone/muscle therapy); or neglect healthcare altogether.¹¹ All of the aforementioned risk factors suggest that undocumented immigrants may be vulnerable population to chronic pain.Information about the prevalence of chronic pain among undocumented immigrants is needed to inform prevention, intervention, advocacy, and policy efforts. To our knowledge, no prior studies have addressed chronic pain among undocumented immigrants. Therefore, this study aimed to (1) assess the prevalence of chronic pain and associated vulnerabilities, including history of trauma, among undocumented Latinx immigrants residing near the US–Mexico border and (2) determine whether there is an association between chronic pain and psychological distress in this immigrant population.     

The challenges of treating a fused tooth

This paper describes and discusses the multidisciplinary treatment involving a permanent maxillary lateral incisor fused to a supernumerary tooth, both presenting pulp necrosis and periapical lesion. A 15-year-old male patient sought treatment complaining of pain, swelling and mobility on the maxillary right lateral incisor. After clinical and radiographic examination, root canal preparation was performed according to the crown-down technique and a calcium hydroxide dressing was placed for 15 days. The patient returned and the definitive endodontic filling was done with thermomechanical compaction of gutta-percha and sealer. After 18 months, clinical and radiographic examinations were carried out and no pain or swelling was reported. Two years after endodontic treatment, the patient returned for periodontal and cosmetic treatments. Nine months later, a cone-beam computed tomography (CBCT) revealed that the previously detected periodontal defect and periapical lesion were persistent. Apical endodontic surgery was indicated. The supernumerary tooth was removed, the communicating distal surface was filled and the surgical site received bioactive glass and demineralized bovine organic bone. The pathological tissue was submitted to histopathological examination and the diagnosis was periapical cyst. One year after the apical endodontic surgery, CBCT showed bone formation at maxillary lateral incisor apical area. Two years after the surgery, the restoration was replaced due to aesthetic reasons and periapical radiograph showed success after 5 years of treatment. A correct diagnosis and establishment of an adequate treatment plan resulted in a successful management of the case.     

The role of macrophage migration inhibitory factor in the cascade of events leading to reperfusion-induced inflammatory injury and lethality

Ischemia and reperfusion (I/R) injury is associated with a systemic inflammatory response, characterized by intense tumor necrosis factor (TNF)-alpha production and TNF-alpha-dependent tissue injury. Macrophage migration inhibitory factor (MIF) is a potent proinflammatory cytokine that may induce TNF-alpha release and play an important role in innate immune and inflammatory responses. The aim of this work was to assess whether MIF was involved the inflammatory cascade and injury that follows intestinal I/R. To this end, wild-type (WT) and MIF-deficient (MIF(-/-)) mice underwent 60 minutes of ischemia followed by 60 minutes of reperfusion, after which they were culled for the assessment of inflammatory parameters. I/R was accompanied by an increase in circulating levels of MIF and an increase of vascular permeability, hemorrhage, and production of TNF-alpha in the intestine and lungs. The latter parameters were markedly suppressed in reperfused MIF(-/-) mice, and this was associated with decreased lethality (80% in WT versus 20% in MIF(-/-) mice). Interestingly, the reperfusion-associated neutrophil accumulation in the intestine and lungs was similar in WT and MIF(-/-) mice. Leukocytes isolated from lungs of MIF(-/-) mice were less activated, as assessed by their response to zymosan in a luminol-enhanced chemiluminescence assay. In conclusion, our results suggest that MIF plays an important role in the cascade of events leading to TNF-alpha production and reperfusion-induced tissue injury and lethality in mice.