The Diagnostic Capacity of Physical Examinations in Diagnosing Musculoskeletal Disorders of the Lower Limbs in Children with Down Syndrome.

Background and Objectives: although musculoskeletal alterations are common in patients with Down syndrome (DS), studies investigating this association are scarce, and proposals for diagnostic standardization are limited. We aimed to evaluate the prevalence of musculoskeletal disorders in the lower limbs in a sample of children and adolescents with DS and to investigate the diagnostic capacity of orthopedic clinical examinations performed by orthopedists and pediatricians to diagnose these alterations. Materials and Methods: Twenty-two patients aged between three and ten years with DS were included. Patients and guardians answered a simple questionnaire regarding orthopedic complaints and underwent a systematic orthopedic physical examination, performed twice: once by an orthopedist and again by a pediatrician. Patients underwent a series of radiographs to diagnose anisomelia, hip dysplasia, epiphysiolysis, flatfoot valgus, mechanical axis varus, and mechanical axis valgus. The radiological diagnosis was considered the gold standard, and the diagnostic capacity of the physical examination performed by each physician was determined. Results: The median age was 6.50 years. Only four patients (18.2%) presented with orthopedic complaints. All patients were diagnosed with at least one musculoskeletal disorder. The only musculoskeletal disorder with a good diagnostic capacity was flatfoot valgus. Limited sensitivity values were found for hip dysplasia, mechanical axis varus, and mechanical axis valgus. The agreement between the orthopedic physical examinations performed by the two examiners was weak, poor, or indeterminate for most of the analyzed items. Conclusions: There was a high prevalence of orthopedic alterations in children with DS who did not present with musculoskeletal complaints. The diagnostic capacity of the physical examination was limited. Therefore, all children with DS should undergo a radiological evaluation of the musculoskeletal system and subsequent specialized orthopedic evaluation. Level of Evidence: Level II (Diagnostic Studies).

Association between Clinical and Histopathological Findings in Intestinal Neuronal Dysplasia Type B: An Advance towards Its Definition as a Disease.

INTRODUCTION: Intestinal neuronal dysplasia type B (IND-B) is a controversial entity that affects the submucosal nerve plexus of the distal intestine. The lack of definition of the causal relationship between histological findings and clinical symptoms has been identified as the primary point to be elucidated in the scientific investigation related to IND-B, which is essential for it to be considered a disease. OBJECTIVE: To investigate the relationship between histopathological findings and symptoms in a series of patients with IND-B. METHODS: Twenty-seven patients with histopathological diagnosis of IND-B, according to the Frankfurt Consensus (1990), who underwent surgical treatment through colorectal resections were included. Data from medical records regarding the clinical picture of the patients at the time of diagnosis, including the intestinal symptom index (ISI) and a detailed histopathological analysis of the rectal specimens, were retrieved. Exploratory factor analysis was performed, applying the principal components method for clusters with Varimax rotation. RESULTS: Two factors were determined: the first, determined by histopathological and clinical variables, and the second, composed of the main symptoms presented in patients with IND-B, including ISI. Factorial rotation showed the association between the two factors and, through a graph, demonstrated the proximity between ISI values and histopathological alterations. CONCLUSION: There was evidence of an association between the clinical features presented by patients with IND-B and the histopathological findings of the rectal samples. These results support the understanding of IND-B as a disease.

PTEN Immunohistochemistry.

CONTEXT.­: Intestinal neuronal dysplasia type B (IND B) is a complex entity involving the enteric nervous system, clinically manifested with constipation in infancy. Diagnosis has been established by histopathologic analysis of rectal biopsies. However, the criteria for the diagnosis have been questioned and modified, hindering diagnostic practice. OBJECTIVE.­: To analyze the applicability of PTEN immunohistochemistry in the diagnosis of IND B and to compare with control cases and cases of Hirschsprung disease (HD). DESIGN.­: PTEN immunohistochemical expression was analyzed in colorectal samples from 29 cases of IND B and compared with 4 control cases and 6 cases of HD. The pattern of PTEN immunoexpression was analyzed in glial cells of the submucosal and myenteric nerve plexuses and in neural fibrils of the muscularis propria using a scoring system. RESULTS.­: Marked reduction or absence of PTEN expression was observed in glial cells of the submucosal nerve plexuses in all cases of the IND B group and in the myenteric nerve plexuses in 28 of 29 cases (96.5%). Lack of PTEN expression was detected in neural fibrils within the muscularis propria in 21 of 29 cases (72%) of the IND B group. PTEN expression was positive in the same neural structures of the control and HD groups. CONCLUSIONS.­: PTEN immunohistochemistry may be a valuable tool in the diagnostic evaluation of IND B. Lack of or reduction of PTEN expression in neural fibrils within the muscularis propria suggests that involvement of the neuromuscular junction may be a key event in the pathogenesis of the motility disturbance occurring in IND B.

Brazilian Portuguese version of the Amsterdam infant stool scale: a valid and reliable scale for evaluation of stool from children up to 120 days old.

BACKGROUND: For newborns and infants wearing diapers the difficulties in characterizing the appearance of the stool are significant, since the changes in consistency, quantity, and color of the stool are higher than in other age groups. The Amsterdam Infant Stool Scale (AISS) was created and validated in 2009, providing a specific tool for the evaluation of the stool of children up to 120 days old. However, to be used in clinical practice and scientific investigations in Brazil, it is mandatory to perform the translation and cross-cultural adaptation process for Brazilian Portuguese language. Thus, we aim to perform the translation and cross-cultural adaptation of AISS into Brazilian Portuguese and to evaluate the psychometric properties of the translated version. METHODS: The process of translation and cross-cultural adaptation was performed according to the internationally accepted methodology, including: translation, summary of translations, backtranslation, preparation of the pre-final version, application of the pre-test and determination of the final version. The evaluation of the psychometric properties was performed through the application of Brazilian Portuguese AISS, by five examiners (including child health field specialists and a literate adult lay on the subject), analyzing 238 stool photographs of children under 120 days old. The intra and inter-examiner agreement values were determined using kappa statistic. The validity of the criterion was investigated through correlation analysis (Kendall's coefficient) between the classifications determined by the non-specialist examiner and the expert examiners. RESULTS: In all 30 tests performed between different examiners, there was an agreement considered as at least moderate (kappa values above 0.40). The intra-examiner reliability was considered as substantial (kappa> 0.6). There was a statistically significant correlation (p <  0.05) between the classifications determined by the examiners considered as specialists and the examiner considered as non-specialist. CONCLUSION: The Brazilian Portuguese AISS version proved to be valid and reliable to be used by healthcare professionals and the general public in the evaluation of stool from children up to 120 days old.

Rectal Biopsy Technique for the Diagnosis of Hirschsprung Disease in Children: A Systematic Review and Meta-Analysis.

ABSTRACT: The diagnosis of Hirschsprung disease (HD) depends on the histopathological analysis of rectal biopsies. This review aims to define the best rectal biopsy technique. A systematic literature review and proportional meta-analysis of the available case series studies of rectal biopsies were performed in this study. All case series with more than five rectal biopsies in children younger than 18 years of age suspected of HD that described at least one type of rectal biopsy were included. The studies that did not specify the rate of conclusive results and the rate of complications of the biopsy procedures were excluded. According to the literature review, there were four different techniques of rectal biopsy: open, suction, punch, and endoscopic. In the title and abstract screening process, we assessed 496 articles, 159 fulfilled the eligibility criteria, and 71 studies reported our outcomes of interest and were included in the meta-analysis. The pooled proportion of conclusive results was 94% in open biopsies (95% CI 0.89-0.98), 95% in punch (95% CI 0.90-0.98), and 88% in suction group (95% CI 0.85-0.92). The pooled proportion of complication rates was 2% in open biopsies (95% CI 0.00031-0.04), 0.039% in suction (95% CI 0.00023-0.0006), and 2% in punch biopsies (95% CI 0.00075-0.04). Suction, punch, and open techniques presented comparable rates of conclusive results. In the suction group, the association between different methods of histopathological analysis increased conclusive results rates; however, the punch biopsy was associated with significantly higher complication rates than the suction technique.

The Correlation Between Students' Progress Testing Scores and Their Performance in a Residency Selection Process.

Brazil is currently seeing an increased number of medical schools, leading to high competition for medical residency vacancies. Public managers have thus considered Progress Testing scores potentially useful as part of the final decision in the medical residency selection process. We analyzed whether there is a correlation between students' Progress Testing scores and their performances in medical residency selection. We examined four subsequent cohorts of students who attempted Progress Testing yearly and compared their accumulated scores with their medical residency selection scores from Botucatu Medical School, Universidade Estadual Paulista. We included 212 students who finished the 6-year medical course in 2013, 2014, 2015, and 2016. The comparison between the area under the Progress Testing curve and the medical residency selection score was performed using a Pearson correlation, with a p value set at < 0.05. We found a positive association between the two scores (p < 0.05 for the 4 years). Next, the students were grouped according to their performance in Progress Testing: above one, within one, and below one standard deviation. A chi-square test was used to compare the rates of approval with the second step of the medical residency selection process. Approval rates were 91.7%, 69.2%, and 42.1%, respectively (p < 0.05). We conclude that, in fact, there is a correlation between students' performance on these measures. This is partially explained by the fact that both instruments measure cognitive competencies and knowledge. These data may support national policy changes for medical residency selection.

A useful panel for the diagnosis of Hirschsprung disease in rectal biopsies: calretinin immunostaining and acetylcholinesterase histochesmistry.

The pathological evaluation of rectal biopsies for the diagnosis of Hirschsprung disease has been a challenging issue. We analyzed prospectively the usefulness of calretinin immunostaining and acetylcholinesterase (AChE) histochesmistry in rectal biopsies for the diagnosis of Hirschsprung disease. Frozen tissue samples from 43 patients were used for AChE histochemistry and paraffin-embedded sections for calretinin immunohistochemistry and conventional histology (hematoxylin and eosin [H&E]). Activity for AChE, was demonstrated in 13 of 43 cases, and the absence of immunoreactivity for calretinin was observed in 14 of 43 cases. Conventional histology (H&E) did not reveal ganglion cells in 24 of 43 cases. The results on calretinin were in good agreement with AChE according to the κ index (0.946; P<.001) and presented significantly higher specificity (96.7×63.3; P<.002) and accuracy (97.6×74.4; P<.003) when compared with conventional histology (H&E). The final diagnosis of Hirschsprung disease was confirmed in 13 of 43 patients who were submitted to surgical treatment. The results of the present study indicate that calretinin can be a good tool in ruling out the diagnosis of Hirschsprung disease, by showing positive staining in ganglion cells and intrinsic nerve fibers, whereas AChE is useful in confirming the diagnosis of Hirschsprung disease, by revealing activity of this enzyme in hypertrophied nerve fibers. The association between calretinin and AChE can be a useful panel for the histopathologic evaluation of rectal biopsies for the diagnosis of Hirschsprung disease.