Two-year clinical and economic burden, risk and outcomes following application of software-assisted hexapod ring fixation systems

Background Multiplanar external fixation systems that employ software-assisted deformity correction consist of rings connected by angled struts, defined as hexapod ring fixators (HRF). Costs and outcomes associated with the application of HRFs are not well documented. This study was designed to provide a nationwide baseline understanding of the clinical presentation, risks, outcomes and payer costs, and healthcare resource utilization (HCU) of patients requiring application of an HRF, from the day of, and up to 2 years, post-application. Methods Patients with HRF application (“index”) between 2007 and 2019 within the IBM Marketscan® Commercial Claims database were identified and categorized based on diagnosis: acquired deformity, arthropathy, congenital deformity, deep infection, nonunion, fracture, and other post-operative fracture sequelae. Demographics, comorbidities at index, complications post-index, HCU, and payments were analyzed. Payments were estimated using a generalized linear model and were adjusted for inflation to the 2020 consumer price index. Rates of deep infection and amputation were estimated up to 2 years post-index using Poisson regressions, and risk factors for each were estimated using logistic regression models. Results Six hundred ninety-five patients were included in our study (including 219 fractures, 168 congenital deformities, 68 deep infections, 103 acquired deformities). Comorbidities at index were significantly different across groups: less than 2% pediatrics vs 18% adults had 3 or more comorbidities, < 1% pediatric vs 29% adults had diabetes. Index payments ranged from $39,250–$75,350, with 12-months post-index payments ranging from $14,350 to $43,108. The duration of the HRF application ranged from 96 days to 174 days. Amputation was observed in patients with deep infection (8.9, 95% confidence interval (CI): 3.2–23.9%), nonunion (5.0, 95%CI: 1.6–15.4%) or fracture (2.7, 95%CI: 0.9–7.6%) at index. Complicated diabetes was the main predictor for deep infection (odds ratio (OR): 5.14, 95%CI: 2.50–10.54) and amputation (OR: 5.26, 95%CI: 1.79–15.51). Conclusions Findings from this longitudinal analysis demonstrate the significant heterogeneity in patients treated with HRF, and the wide range in treatment intensity, payments, and outcomes. Risks for deep infection and amputation were primarily linked to the presence of complicated diabetes at the time of HRF application, suggesting a need for careful management of comorbid chronic conditions in patients requiring HRF for orthopedic care.

Association Between MTHFD1 1958G > A Variant and non-Syndromic Cleft lip and Palate: An Updated Meta-Analysis

Introduction Non-syndromic cleft lip and palate (NSCLP) is one of the most common and challenging congenital deformities worldwide. Previous research has linked the methylenetetrahydrofolate dehydrogenase1 (MTHFD1) gene to orofacial cleft (OFC) susceptibility via a complex metabolism. Studies analyzing the MTHFD1 1958G > A variant and NSCLP are contradictory. This study aims to evaluate the association between the MTHFD1 1958G > A variant and NSCLP by meta-analysis. Methods PubMed, Web of Science, MEDLINE, and Google Scholar databases were searched to retrieve the eligible studies. A fixed- or random-effect model was used to calculate pooled odds ratio (OR) and 95% confidence interval (CI). All analyses were calculated by Metagenyo software. To detect heterogeneity, the Cochrane Q and I2 statistics were used. The publication bias was estimated using funnel plots and Egger’s test. Results Our study suggested that the MTHFD1 1958G > A variant allele “A” does not appear to increase the risk of NSCLP (A vs G random effect model: Overall P = .501, OR = 1.07, CI = 0.88–1.31; Asians P = .245, OR = 1.29, CI = 0.84–1.97; Caucasians P = .658, OR = 0.95, CI = 0.76–1.19). Similarly, mutant genotypes also did not exhibit increased risk for NSCLP in the overall populations as well in subgroup analysis by ethnicity (AA + AG vs GG: Overall P = .684, OR = 1.06, CI = 0.80–1.39; Asians P = .240, OR = 1.47, CI = 0.77–2.78; Caucasians P = .923, OR = 0.99, CI = 0.85–1.16). Conclusions Our data suggest no association between the MTHFD1 1958G > A variant and NSCLP. Additional well-designed studies are needed to better understand the role of MTHFD1 polymorphisms in the etiopathogenesis of NSCLP.

The influence of the TBX6 gene on the development of congenital spinal deformities in children

BACKGROUND: Congenital deformities of the spine are a group of serious congenital defects of the vertebrae, which can manifest themselves in the clinical picture as an isolated pathology of the axial musculoskeletal system, and are associated with congenital defects of internal organs and other systems. Recently, the TBX6 gene has been identified as the genetic cause of congenital scoliosis in about 11% of cases. This subtype of scoliosis is classified as TBX6-associated congenital scoliosis. The TBX6-associated congenital scoliosis phenotype is characterized by butterfly-shaped vertebrae and hemivertebrae in the lower thoracic and lumbar regions without pronounced malformations of the spinal cord. AIM: Our aim is to study and evaluate data from foreign and domestic scientific publications devoted to the study of the candidate gene for congenital scoliosis TBX6. MATERIALS AND METHODS: The following databases of scientific publications such as PubMed, Cochrane Library, Web of Science, SCOPUS, MEDLINE, e-Library, Cyberleninka were used to write this review. The inclusion criteria were systematic reviews, meta-analyses, multicenter studies, controlled cohort studies, uncontrolled cohort studies of patients with congenital spinal deformities. The exclusion criteria were clinical cases, observations, conference proceedings, congenital scoliosis in genetic syndromes, congenital scoliosis associated with defects of the nervous system. RESULTS: In order to achieve this goal, 70 scientific publications were studied relating to the data analysis of the candidate gene for congenital scoliosis TBX6. Among 49 publications that were identified, 2 were domestics, and the rest were foreign publications. These studies provided information on the molecular analysis of genes that cause congenital spinal deformities in humans and animals. CONCLUSIONS: An analysis of the published research work on this topic indicates the presence of a significant effect of mutations in the TBX6 gene, leading to the appearance of congenital scoliosis. Advances in elucidating the genetic contribution to the development of congenital spinal deformities and the molecular etiology of clinical phenotypes may uncover the opportunities for further refinement of the classification of signs of congenital scoliosis in accordance with the underlying genetic etiology.

A Prospective comparative Study of Vermilion repair by Modified Vadvancement Vermilion Flap in Unilateral Cleft Lip Patients

Background Oro-facial clefts include a range of congenital deformities most commonly presenting as cleft lip with or without cleft palate (CLP) or isolated cleft palate (CP). CLP is the second most common congenital birth defect in the U.S. Aim of the Work to assess modified v-advancement vermilion flap combined with Tennison technique for vermilion repair in unilateral cleft lip regarding aesthetic outcome in comparison with repair of cleft lip by Tennison technique. Patients and methods This study was conducted in plastic, maxillofacial and reconstructive surgery department in Ain Shams University between September 2019 to February 2020. It included 20 patients divided into two group; the first group consisted of 10 patients who underwent repair of cleft lip by Tennison technique and the second group consisted of 10 patients who underwent repair by Tennison technique combined with v- advancement vermilion flap. Both groups were assessed postoperatively by Asher-McDade et. al. scoring system. Result The study showed statistically significant difference between the two groups as regard the white lip length which was more symmetrical in cases repaired by Tennison technique combined with modified v-advancement vermillion flap (P = 0.01). The bulge and the deficiency in the lateral vermilion were decreased in the group treated by Tennison technique with modified v-advancement vermilion flap. However the difference was statistically insignificant (P = 0.66). Conclusion The choice of a technique for surgical correction of UCL should be based on an evidence that this technique has the best functional and aesthetic outcomes. The findings of this study support the view that these two methods of cleft lip repair have their own advantages and disadvantages. Tennison technique combined with vadvancement vermilion flap achieved less bulge in the vermilion with no statistically significant difference.

One cannot know anatomy too well: Jēkabs Prīmanis and anatomy for artists

In recent years the scholars have stressed the role of anatomical collections and their histories as crucial to new interdisciplinary studies that investigate the interaction between arts and sciences. This could be attributed as well to the new exposition of Anatomy museum of Rīga Stradiņš University, that was opened to visitors in 2021. Museum galleries reveal the interplay between anatomists, artists and museum specialists, both in historical and contemporary contexts. Between the specimen jars and human bones, the anatomical drawings of both medical and art students are displayed. Sculpture-like life casts of congenital deformities made by anatomists contrast the ideal but skinless muscle man L’Ecorche Combattant. Historical artefacts interact with modern anatomical 3D illustration and multimedial solutions created by contemporary artists. No doubt, artists were and are important for visualising, explaining and displaying anatomy. But what about the role of anatomists in arts? This article aims to investigate an episode in the biography of long-time museum director anatomist and anthropologist professor Jēkabs Prīmanis (1892–1971) and his role in teaching the so-called plastic anatomy to the students of the Art Academy of Latvia.

Gross Anatomical Study of Congenital Meningoencephalocoele and Craniofacial Deformities in A Kid

Background: Occurrence of congenital anomalies are less common in small ruminants, especially in goats compared to sheep. Most common cause for the congenital deformities in new born ruminants is due to the ingestion of toxic plants during gestation. Congenital meningoencephalocoele with associated craniofacial deformities is a rare occurrence in goats. Materials: A day old crossbred kid was presented with cranial defects and protrusion of brain through the defect. Detailed examination of the animal revealed cranioschisis in the frontal and parietal region along with presence of cleft lip, cleft palate and accessory ear lobe on the right side. Herniation of meninges and brain was exposed directly and was not covered by skin. There were two parietal cranial defects separated by a plate of bone. Result: Postmortem examination of the animal showed bilateral cleft lip and cleft palate with lateral deviation of nasal septum and deformation of premaxillary region. On reflection of skin over the frontal region, revealed frontal cranioschisis and the brain was situated subcutaneously. There were total of three cranial defects (two in the parietal and one in the frontal region) separated by small plates of bone in between them. This present study explains the anatomical aspects of cranioschisis, meningoencephalocoele, cleft lip, cleft palate and associated craniofacial abnormalities in a day old kid.

Patterns of Cleft Lip and Cleft Palate in Southern Pakistani Population

Objectives: To determine various types of cleft lip and palate, its geographical distribution and its association with cousin marriages, family history and other craniofacial syndromes in the Southern Pakistani population. Study design: Cross-sectional study Place and Duration of Study: Plastic Surgery Department of Sheikh Zayed Medical College / Hospital, Rahim Yar Khan and Hamza Medicare, Rahim Yar Khan from January 2020 to March 2021. Methodology: All patients who presented to the outpatients department with cleft deformities of lip and palate, irrespective of their age and gender were included in the study. Patients who were operated previously and those who were not agree with the study protocol were excluded from the study. The data were collected through a structured proforma as well as history and physical examination. The data were organized and analyzed through Statistical Package for Social Sciences version 23. Results: Total of 403 patients with cleft lip and palate deformities were included in this study, with an average age of 39±62 months. Out of total 239 59.3% were males with male to females ratio of 1.4:1. Cleft lip with cleft palate, cleft palate only and isolated cleft lip were found in 56.8%, 13.4% and 29.20% of cases respectively and 2 (0.5%) cases of median cleft. Out of total, 155 (38.5%) were from Southern Punjab, 50.6% from Sindh and 10.9% were from Baluchistan Province. In 386 (95.8%) cases parent had a History of cousin marriage, and family history of Cleft Lip & Cleft Palate was positive in 67 (16.6%) cases. Other congenital anomalies were found in 12.5% of cases. Conclusion: Cleft lip and palate deformities affected the male population more than females. Cleft lip in association with cleft palate is the commonest deformity. Isolated cleft palate mainly affected females. The high incidence of these anomalies in cousin marriages emphasizes educating the people to avoid cousin marriages. Key Words: Cleft Lip, Cleft Palate, Consanguinity, Family history. Congenital deformities

Collection 14 / IV

Dr. A. Gerasimova demonstrated patients with rare congenital deformities, one with spina bifida (meningo-myelo cystocele), paraplegic clubfoot and prolapsus recti, and the other with congenital clubfoot and spontaneous amputations.

Congenital deformities of the breast

Congenital breast anomalies include supernumerary nipples (polythelia) and supernumerary breasts (polymastia) which can be generally found on the embryonic mammary ridge. Absence of the breast occurs less frequently and varying presentations of absence of nipples only (athelia), absence of mammary gland tissue (amazia), or absence of the entire breast (amastia). Tuberous breast deformity is a common congenital anomaly with varying degrees of constriction, hypoplasia, areolar herniation, skin deficiency, and asymmetry. Treatment consists of breast augmentation, either primarily or after tissue expansion, in combination with mastopexy. Gynaecomastia is the development of breast tissue in males. The aetiology is diverse and includes physiological, pathological, acquired, drug-related, and idiopathic causes. Poland syndrome is discussed elsewhere (Chapter 9.2).