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1.
J Pediatr Surg ; 54(8): 1590-1594, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31027906

RESUMO

INTRODUCTION: Cloacal malformations, a confluence of the urinary tract, vagina and rectum into a single common channel, has a broad and complex anatomic spectrum requiring an imaging tool for visualization, measurement, and surgical planning for the reconstruction of these structures. We evaluated the role of 3-D fluoroscopy for this purpose, as it offers a combination of spatial correlation with precise anatomic measurements. METHODS: We examined our imaging protocol for patients with a cloacal malformation and report our experience with rotational fluoroscopy and 3-D reconstruction in 16 consecutive patients referred for cloacal reconstruction. The length of the common channel (CC), the length of the urethra from the bladder neck to the common channel, and the height (and existence or absence) of a vagina or vaginas were determinants of the surgical procedures used for the repair. RESULTS: We performed 16 consecutive 3-D cloacagrams (age range 4 months to 9 years) using a new protocol (Figure 1) that provided the following data which helped with surgical planning: Gynecologic: 3 cases with a single vagina, 5 cases with a duplicated Mullerian system (3 of which were asymmetric) and 2 cases with high vaginas requiring vaginal replacement. Colorectal: Four had a high rectum requiring an abdominal approach, and 6 had a rectum reachable via a posterior sagittal approach. Urologic: Two ectopic ureters requiring reimplantation, 3 patients had vesicoureteral reflux (1 bilateral, 2 unilateral), 1 patient had no bladder, and 7 had a normal sized bladder. Common channel length and urethral length were demonstrated in all cases and used to decide between a total urogenital mobilization or a separation of vagina(s) from the common channel, urogenital separation. CONCLUSION: The 3-D cloacagram can help predict the surgical plan for urologic, gynecologic, and colorectal components of the cloacal repair. It can predict the CC length as well as the length of the urethra. It helps with predicting the need for vaginal replacement and whether an abdominal approach is needed for the rectum. Its effectiveness is based on the ability to adequately distend structures and see their distal most extent, an advantage over other modalities such as MRI. Added benefits (particularly from the 3D view) include a better spatial understanding of the defect and the diagnosis of concomitant urological abnormalities such as vesicoureteral reflux and ectopic ureters. Disadvantages to this procedure include the need for general anesthesia and a higher exposure to radiation. LEVEL OF EVIDENCE: 3.

2.
Am J Hum Genet ; 104(4): 758-766, 2019 Apr 04.
Artigo em Inglês | MEDLINE | ID: mdl-30929739

RESUMO

By using exome sequencing and a gene matching approach, we identified de novo and inherited pathogenic variants in KDM3B in 14 unrelated individuals and three affected parents with varying degrees of intellectual disability (ID) or developmental delay (DD) and short stature. The individuals share additional phenotypic features that include feeding difficulties in infancy, joint hypermobility, and characteristic facial features such as a wide mouth, a pointed chin, long ears, and a low columella. Notably, two individuals developed cancer, acute myeloid leukemia and Hodgkin lymphoma, in childhood. KDM3B encodes for a histone demethylase and is involved in H3K9 demethylation, a crucial part of chromatin modification required for transcriptional regulation. We identified missense and truncating variants, suggesting that KDM3B haploinsufficiency is the underlying mechanism for this syndrome. By using a hybrid facial-recognition model, we show that individuals with a pathogenic variant in KDM3B have a facial gestalt, and that they show significant facial similarity compared to control individuals with ID. In conclusion, pathogenic variants in KDM3B cause a syndrome characterized by ID, short stature, and facial dysmorphism.

3.
Front Surg ; 5: 67, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30483511

RESUMO

Introduction: Operative surgical videos are a popular educational resource, not commonly a part of a peer-reviewed article. We wanted to evaluate the impact of either reading a peer-reviewed manuscript or watching an operative video on a surgeon's confidence in performing a complex case. Methods: Pediatric surgeons and fellows were asked to complete an initial questionnaire to assess their confidence (formulated as a score) in the diagnosis and operative repair of anal stenosis and rectal atresia. Results: Of 101 pediatric surgeons and fellows, 52 (51%) were randomized into a "manuscript" group and 49 (49%) into a "video" group. The mean confidence before the intervention was the same in the two groups (6.4 vs. 6.6). Attending surgeons started with more confidence than trainees (7.1 vs. 5.3, p < 0.001). In the manuscript group, the average confidence increased to 7.7 (p = 0.005), and in the video group the average confidence increased to 7.9 (p = 0.001) globally. Trainees in the video group significantly improved their confidence to a score of 6.6 (p = 0.035), as did attending surgeons to 8.5 (p = 0.01). In the manuscript group, only attendings significantly improved their confidence by 1.5-8.3 (p < 0.001), whereas trainees did not with a difference of 1.3 (p = 0.194). When considering experience level, physicians who reported never having performed this surgery improved only by reading the manuscript (3.9-6.2) (p = 0.004), not by watching the video (5.4-6.6) (p = 0.106). Surgeons with experience doing this operation (>5 times) did not improve their confidence by reading the manuscript (p = 0.10), nor by watching the video (p = 0.112). Conclusion: Reviewing either a detailed manuscript or operative video on the surgical management of rectal atresia and anal stenosis demonstrated a significant increase in self-reported confidence. Trainees benefitted the most from operative videos, whereas experienced surgeons did not improve their confidence by reading the manuscript nor watching the video.

4.
Genet Med ; 2018 Sep 24.
Artigo em Inglês | MEDLINE | ID: mdl-30245513

RESUMO

PURPOSE: Pathogenic variants in KAT6A have recently been identified as a cause of syndromic developmental delay. Within 2 years, the number of patients identified with pathogenic KAT6A variants has rapidly expanded and the full extent and variability of the clinical phenotype has not been reported. METHODS: We obtained data for patients with KAT6A pathogenic variants through three sources: treating clinicians, an online family survey distributed through social media, and a literature review. RESULTS: We identified 52 unreported cases, bringing the total number of published cases to 76. Our results expand the genotypic spectrum of pathogenic variants to include missense and splicing mutations. We functionally validated a pathogenic splice-site variant and identified a likely hotspot location for de novo missense variants. The majority of clinical features in KAT6A syndrome have highly variable penetrance. For core features such as intellectual disability, speech delay, microcephaly, cardiac anomalies, and gastrointestinal complications, genotype- phenotype correlations show that late-truncating pathogenic variants (exons 16-17) are significantly more prevalent. We highlight novel associations, including an increased risk of gastrointestinal obstruction. CONCLUSION: Our data expand the genotypic and phenotypic spectrum for individuals with genetic pathogenic variants in KAT6A and we outline appropriate clinical management.

5.
J Pediatr Surg ; 53(9): 1737-1741, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-29773453

RESUMO

BACKGROUND: Published health-care costs related to constipation in children in the USA are estimated at $3.9 billion/year. We sought to assess the effect of a bowel management program (BMP) on health-care utilization and costs. METHODS: At two collaborating centers, BMP involves an outpatient week during which a treatment plan is implemented and objective assessment of stool burden is performed with daily radiography. We reviewed all patients with severe functional constipation who participated in the program from March 2011 to June 2015 in center 1 and from April 2014 to April 2016 in center 2. ED visits, hospital admissions, and constipation-related morbidities (abdominal pain, fecal impaction, urinary retention, urinary tract infections) 12 months before and 12 months after completion of the BMP were recorded. RESULTS: One hundred eighty-four patients were included (center 1 = 96, center 2 = 88). Sixty-three (34.2%) patients had at least one unplanned visit to the ED before treatment. ED visits decreased to 23 (12.5%) or by 64% (p < 0.0005). Unplanned hospital admissions decreased from 65 to 28, i.e., a 56.9% reduction (p < 0.0005). CONCLUSION: In children with severe functional constipation, a structured BMP decreases unplanned visits to the ED, hospital admissions, and costs for constipation-related health care. LEVEL OF EVIDENCE: 3.


Assuntos
Constipação Intestinal/terapia , Gerenciamento Clínico , Serviço Hospitalar de Emergência/estatística & dados numéricos , Custos de Cuidados de Saúde/estatística & dados numéricos , Hospitalização/estatística & dados numéricos , Criança , Constipação Intestinal/economia , Serviço Hospitalar de Emergência/economia , Seguimentos , Hospitalização/economia , Humanos , Resultado do Tratamento , Estados Unidos
6.
J Pediatr Surg ; 53(10): 1951-1954, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-29550037

RESUMO

BACKGROUND/PURPOSE: We conduct an annual medical mission to Hospital Ruth Paz para Niños Quemados y Cirugía Pediátrica in Honduras to operate on cases of anorectal malformations (ARM). To improve our knowledge of these patients, we compared their health-related quality of life (HRQoL), and the health literacy of their caregivers from this hospital and ours in the United States. METHODS: The BRIEF Health Literacy Screen (BHLS) and Pediatric Quality of Life Inventory 4.0 (PedsQL) were used, respectively, to assess the health literacy and HRQoL of their guardians. All patients scheduled for an ARM-related operation in October 2016 were eligible for inclusion, and a matched population was selected in Nationwide Children's Hospital, Columbus, Ohio. RESULTS: The sample comprised 127 patients, with 22 from Honduras and 105, the US. About 13.6% and 80% of Honduran and American caregivers, respectively, had adequate literacy. Honduran and American caregivers of patients aged 12 months and below rated the HRQoL of their children at 87 and 82, respectively; aged between two and four years, at 84 and 77; aged between two and four years, at 85 and 79; and of teens, at 59 and 66. For adults, the rate was 71 and 77 in Honduras and the US, respectively. CONCLUSION: Although health literacy is extremely low in the Honduran group, its HRQoL was comparable to that of its American counterpart. Improving health literacy by educating caregivers could be an additional goal for medical missions in the future. LEVEL OF EVIDENCE: Level III.

7.
J Pediatr Surg ; 52(12): 1997-2000, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-29223544

RESUMO

INTRODUCTION: Health literacy is low in an estimated one-third of the US population. Little is known about the health literacy of caregivers of children with colorectal conditions. The objective of this study was to investigate whether a timed health literacy intervention could improve health literacy in this population. METHODS: We used the BRIEF Health Literacy screening (BHLS) tool on caregivers of children who came to our colorectal clinic. Health literacy was categorized as inadequate, marginal, or adequate. The number of caregivers with adequate health literacy was compared to the number of clinic visits and socioeconomic status. RESULTS: We included 233 caregivers. The average number of clinic visits was 3.5 over 1.2years. At the first clinic visit, 70% (n=98) of caregivers had "adequate" health literacy. Scores improved to 88% (p=0.024) after the fourth visit. Socioeconomic factors were not associated with health literacy. Patients of caregivers with "adequate" health literacy visited our clinic 3.8 times, compared to 2.7 times for those with lower literacy (p=0.006). CONCLUSION: Emphasis on providing an education-based approach at each visit increased health literacy significantly. As expected, health literacy was lowest during the first visit, which we believe is the optimal time to implement educational interventions. TYPE OF STUDY: Case Control/Retrospective Comparative Study. LEVEL OF EVIDENCE: Level III.


Assuntos
Assistência Ambulatorial/organização & administração , Cuidadores/educação , Cuidadores/estatística & dados numéricos , Alfabetização em Saúde/estatística & dados numéricos , Doenças Retais/terapia , Instituições de Assistência Ambulatorial/organização & administração , Criança , Feminino , Humanos , Masculino , Estudos Retrospectivos , Fatores Socioeconômicos
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