Surgical Correction of Ischiopagus Tripus Conjoined Twins with Fused Pelvis: Enhancing Quality of Life through Orthopedic Intervention.

BACKGROUND The rarity of ischiopagus tripus conjoined twins complicates the surgical separation, owing to the lack of cases and high complexity. We aim to report our experience in performing orthopedic correction for ischiopagus tripus twins. CASE REPORT A pair of 3-year-old conjoined boys presented with a fused body at the pelvis region and only 1 umbilicus. There were 2 legs separated by shared genitalia and an anus at the midline, and 1 fused leg, which could be felt and moved by both of the patients. The twins also shared internal organs of the bladder, intestine, and rectum, as visualized through angiography computerized tomography scan. After several team discussions with the institutional review board, the hospital ethics committee, and both parents, it was agreed to perform disarticulation of the fused third limb, followed by correction of the trunk alignment by pelvic closed wedge osteotomy and internal fixation. We successfully reconstructed the pelvis using locking plates and additional 3.5-mm cortical screws and 1.2-mm stainless steel wire. CONCLUSIONS This report describes the presentation and surgical management of a case of ischiopagus tripus conjoined twins. It highlights the challenges involved in surgery and the importance of investigating these infants for other congenital abnormalities. Although surgical approaches for different sets of twins should be individually tailored, interventions aimed to provide optimal outcomes should consider ethical issues and parental/patient expectations. Even in situations in which the twins are inseparable, there is still room for surgical correction to be performed.

Management of a Pelvic Abscess and Abdominal Fistula after Palliative Total Pelvic Exenteration with Intraoperative Radiotherapy in Recurrent Rectal Cancer Without NPWT: A Case Report.

ABSTRACT: A 59-year-old man with recurrent rectal cancer and type 2 diabetes mellitus underwent palliative total pelvic exenteration and intraoperative radiotherapy. After surgery, he experienced a pelvic abscess and abdominal-perineal fistula. Profuse exudate contaminated the midline abdominal incision through the abdominal-perineal fistula and delayed healing. Because of a residual tumor and the high cost, negative-pressure wound therapy was not performed. After 76 days of local treatment that involved removing necrotic tissue, controlling inflammation with an antimicrobial silver dressing, absorbing and draining exudate with a hypertonic saline dressing, promoting granulation and preventing infection with a silver alginate dressing, and promoting re-epithelialization with recombinant human epidermal growth factor gel, the abdominal wound and abdominal-perineal fistula healed successfully.

Single-cell transcriptional profiling reveals the heterogeneity in embryonal rhabdomyosarcoma.

ABSTRACT: Rhabdomyosarcoma is the most common soft tissue sarcoma in children, and embryonal rhabdomyosarcoma is the most typical type of rhabdomyosarcoma. The heterogeneity, etiology, and origin of embryonal rhabdomyosarcoma remain unknown.After obtaining the gene expression data of every cell in the tumor tissue by single-cell RNA sequencing, we used the Seurat package in R studio for quality control, analysis, and exploration of the data. All cells are divided into tumor cells and non-tumor cells, and we chose tumor cells by marker genes. Then, we repeated the process to cluster the tumor cells and divided the subgroups by their differentially expressed genes and gene ontology/Kyoto Encyclopedia of Genes and Genomes analysis. Additionally, Monocle 2 was used for pseudo-time analysis to obtain the evolution trajectory of cells in tumor tissues.Tumor cells were divided into 5 subgroups according to their functions, which were characterized by high proliferation, sensing and adaptation to oxygen availability, enhanced epigenetic modification, enhanced nucleoside phosphonic acid metabolism, and ossification. Evolution trajectory of cells in tumor tissues is obtained.We used pseudo-time analysis to distinguish between mesenchymal stem cells and fibroblasts, proved that embryonal rhabdomyosarcoma in the pelvic originated from skeletal muscle progenitor cells, showed the evolutionary trajectory of embryonal rhabdomyosarcoma, and improved the method of evaluating the degree of malignancy of embryonal rhabdomyosarcoma.

Accurate reconstructions of pelvic defects and discontinuities using statistical shape models.

Treatment of large acetabular defects and discontinuities remains challenging and relies on the accurate restoration of the native anatomy of the patient. This study introduces and validates a statistical shape model for the reconstruction of acetabular discontinuities with severe bone loss through a two-sided Markov Chain Monte Carlo reconstruction method. The performance of the reconstruction algorithm was evaluated using leave-one-out cross-validation in three defect types with varying severity as well as severe defects with discontinuities. The two-sided reconstruction method was compared to a one-sided methodology. Although, reconstruction errors increased with defect size and this increase was most pronounced for pelvic discontinuities, the two-sided reconstruction method was able to reconstruct the native anatomy with higher accuracy than the one-sided reconstruction method. These findings can improve the preoperative planning and custom implant design in patients with large pelvic defects, both with and without discontinuities.

Minimally Invasive Advances in Deformity.

Adult spinal deformity is a major contributor to pain and disability. It is a degenerative disease with a rigid spine. Spinopelvic parameters have been identified that outline goals of operative intervention, as they have shown to significantly improve patient outcomes. Previously, this was accomplished with large, open fusions. Unfortunately, the adult spinal deformity population is often elderly with significant comorbidities. These extensive fusions have a high rate of morbidity and mortality. Technological advances have allowed minimally invasive approaches to be developed. These techniques have decreased operative morbidity without increasing health care spending.

Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia.

The development of hindlimbs in tetrapod species relies specifically on the transcription factor TBX4. In humans, heterozygous loss-of-function TBX4 mutations cause dominant small patella syndrome (SPS) due to haploinsufficiency. Here, we characterize a striking clinical entity in four fetuses with complete posterior amelia with pelvis and pulmonary hypoplasia (PAPPA). Through exome sequencing, we find that PAPPA syndrome is caused by homozygous TBX4 inactivating mutations during embryogenesis in humans. In two consanguineous couples, we uncover distinct germline TBX4 coding mutations, p.Tyr113∗ and p.Tyr127Asn, that segregated with SPS in heterozygous parents and with posterior amelia with pelvis and pulmonary hypoplasia syndrome (PAPPAS) in one available homozygous fetus. A complete absence of TBX4 transcripts in this proband with biallelic p.Tyr113∗ stop-gain mutations revealed nonsense-mediated decay of the endogenous mRNA. CRISPR/Cas9-mediated TBX4 deletion in Xenopus embryos confirmed its restricted role during leg development. We conclude that SPS and PAPPAS are allelic diseases of TBX4 deficiency and that TBX4 is an essential transcription factor for organogenesis of the lungs, pelvis, and hindlimbs in humans.

Chondrosarcoma of the pelvis - case report.

Chondrosarcoma (CHS) is the third most common primary bone tumor after myeloma and osteosarcoma. Histologically, it is made of pure hyaline cartilage differentiation. The tumor itself may have myxoid modification and calcification. It occurs especially after 50 years, with an equal gender distribution. Most CHS are solitary, the etiology is still unclear and most of them are discovered accidentally. Early diagnosis is crucial for a good prognosis. In this paper, we would like to present a case of a female patient with an accidentally discovered CHS of the iliopubic and ischiopubic ramus of the pelvis. The purpose of this report is to highlight the importance of multidisciplinary management of tumor pathology, especially when the site of the tumor is surgically hardly accessible and to underline possible common genetic aspects of benign and malignant tumors.

The Influence of Body Mass Index on Achieving Age-Adjusted Alignment Goals in Adult Spinal Deformity Corrective Surgery with Full-Body Analysis at 1 Year.

BACKGROUND: The impact of obesity on global spinopelvic alignment is poorly understood. This study investigated the effect of body mass index on achieving alignment targets and compensation mechanisms after corrective surgery for adult spinal deformity (ASD). METHODS: Retrospective review of a single-center database. Inclusion: patients ≥18 years with full-body stereographic images (baseline and 1 year) and who met ASD criteria (sagittal vertical axis [SVA] >5 cm, pelvic incidence minus lumbar lordosis [PI-LL] >10°, coronal curvature >20° or pelvic tilt >20°). Patients were stratified by age (<40, 40-65, and ≥65 years) and body mass index (<25, 25-30, and >30). Postoperative alignment was compared with age-adjusted ideal values. Prevalence of patients who matched ideals and unmatched (undercorrected/overcorrected) was assessed. Health-related quality of life (HRQL) scores, alignment, and compensatory mechanisms were compared across cohorts using analysis of variance and temporally with paired t tests. RESULTS: A total of 116 patients were included (average age, 62 years; 66% female). After corrective surgery, obese and overweight patients had more residual malalignment (worse PI-LL, T1 pelvic angle, pelvic tilt, and SVA) compared with normal patients (P < 0.05). In addition, obese and overweight patients recruited more pelvic shift (obese, 62.36; overweight, 49.80; normal, 31.50) and had a higher global sagittal angle (obese, 6.51; overweight, 6.35; normal, 3.40) (P < 0.05). Obese and overweight patients showed lower overcorrection rates and higher undercorrection rates (P < 0.05). Obese patients showed worse postoperative HRQL scores (Scoliosis Research Society 22 Questionnaire, Oswestry Disability Index, visual analog scale-leg) than did overweight and normal patients (P < 0.05). Obese and overweight patients who matched age-adjusted alignment targets for SVA or PI-LL showed no HRQL improvements (P > 0.05). CONCLUSIONS: After surgery, obese patients were undercorrected, showed more residual malalignment, recruited more pelvic shift, and had a greater global sagittal angle and worse HRQL scores. The benefits from age-adjusted alignment targets seem to be less substantial for obese and overweight patients.

A Case of Parasitic Twinning or Caudal Duplication in a Dog.

A 6 mo old 13.5 kg (29.7 lb) male intact American Staffordshire terrier was evaluated for a history of supernumerary pelvic limbs, with malodorous discharge from a supernumerary penis. Imaging (radiographs, abdominal ultrasound, and computed tomography with excretory urogram) showed a supernumerary pelvis with associated pelvic limbs, no osseous continuity with the primary spinal column, a colonic diverticulum extending to the supernumerary pelvis, an enlarged left kidney with a ureter connecting to a single bladder, right renal aplasia, a single descended testicle in the primary scrotum, an intra-abdominal cryptorchid testicle, and two unidentifiable soft tissue masses. At surgery, a single ileum was present with a primary and accessory cecum and colon and the accessory colon entering the supernumerary pelvis. The accessory cecum and colon, right kidney, two unknown soft tissue masses, and the single descended testicle were removed. The right kidney had a ureter that anastomosed with the accessory colon at its entry into the supernumerary pelvis. The supernumerary pelvis and hind limbs were not removed. Five months after surgery, the dog was reported to be doing well clinically. Caudal duplication is extremely rare in veterinary medicine. The appearance of supernumerary external structures may indicate internal connections as well.

Parturient With Barnes Syndrome (Thoracolaryngopelvic Dysplasia) Undergoing Cesarean Delivery of a Neonate With Barnes Syndrome: A Case Report.

This case describes a parturient with Barnes syndrome, a rare disorder characterized by subglottic stenosis, thoracic dystrophy, and small pelvic inlet, who underwent cesarean delivery of a neonate diagnosed with Barnes syndrome. Live simulation training was performed by multidisciplinary team to prepare for the spinal anesthetic, personnel flow between 2 operating rooms, and management of various airway scenarios for the newborn. After delivery, the neonate underwent laryngoscopy-bronchoscopy with successful intubation in the operating room because of labored breathing. Airway evaluation revealed subglottic stenosis, tracheomalacia/bronchomalacia. Collaboration among perinatologists, obstetric/pediatric anesthesiologists, pediatric head and neck surgeons, and neonatologists was integral to perioperative management of both the mother and child.

A Critical Analysis of Sagittal Plane Deformity Correction With Minimally Invasive Adult Spinal Deformity Surgery: A 2-Year Follow-Up Study.

INTRODUCTION: Sagittal plane realignment is important to achieve desirable clinical outcomes after adult spinal deformity (ASD) surgery. This study evaluates the impact of minimally invasive (MIS) techniques on sagittal plane alignment and clinical outcomes in ASD patients. METHODS: A retrospective, multi-center review of ASD patients (age ≥18 years, and with one of the following: coronal Cobb ≥20°, sagittal vertical axis [SVA] >5 cm, and/or pelvic tilt >25°), MIS surgery, and four or more levels instrumented. Patients were stratified by baseline SRS-Schwab global alignment modifier (GAM) into three groups: 0 (SVA <4 cm), + (SVA 4-9.5 cm), or ++ (SVA >9.5 cm). Radiographic and clinical outcomes measures were analyzed with a minimum of 2-year follow-up. RESULTS: A total of 96 ASD patients were identified, and 63 met the study's inclusion criteria of circumferential MIS or posterior MIS only, with four or more levels instrumented (n: Group 0 = 37, Group + = 15, and Group ++ = 11). Group 0 was younger than ++ (56.8 vs. 69.6 years), with a higher proportion of females than Group + or ++ (83.8% vs. 66.7% and 54.5%, respectively). Baseline HRQoL was similar. Postoperatively, Groups 0 and + had improved Oswestry Disability Index (ODI) and numeric rating scale (NRS) back and leg scores. Group ++ only had improvement in NRS scores. At the latest follow-up, Groups 0 and ++ had similar sagittal measurements except for PT (21.6 vs. 23.6, p = .009). The + group had improvement in PI-LL (24.2 to 17; p = .015) and LL (30.9 to 38.3; p = .013). Eight of 27 (21.6%) Group 0 patients deteriorated (4 to Group +, 4 to Group ++). Three of 15 (20.0%) Group + patients deteriorated to Group ++, and 3 improved to Group 0. Six of 11 (54.5%) Group ++ patients improved (3 to Group + and 3 to Group 0). CONCLUSIONS: MIS techniques successfully stabilized ASD patients with Group 0 and + deformities and improved HRQoL. This study suggests that severe sagittal imbalance is not adequately treated with MIS approaches.

A long term follow-up study of the development of hip disease in Mucopolysaccharidosis type VI.

Hip problems in Mucopolysaccharidosis type VI (MPS VI) lead to severe disability. Lack of data on the course of hip disease in MPS VI make decisions regarding necessity, timing and type of surgical intervention difficult. We therefore studied the development of hip pathology in MPS VI patients over time. Data were collected as part of a prospective follow-up study. Standardized supine AP pelvis and frog leg lateral radiographs of both hips were performed yearly or every 2years. Image assessment was performed quantitatively (angle measurements) and qualitatively (hip morphology). Clinical burden of hip disease was evaluated by physical examination, six minute walking test (6MWT) and a questionnaire assessing pain, wheelchair-dependency and walking distance. A total of 157 pelvic radiographs of 14 ERT treated MPS VI patients were evaluated. Age at first image ranged from 2.0 to 21.1years. Median follow up duration was 6.8years. In all patients, even in the youngest, the acetabulum and os ilium were dysplastic. Coverage of the femoral head by the acetabulum improved over time, but remained insufficient. While the femoral head appeared normal in the radiographs at young age, the ossification pattern became abnormal in all patients over time. In all patients the distance covered in the 6MWT was reduced (median Z scores -3.3). Twelve patients had a waddling gait. Four patients were partially wheelchair-dependent and ten patients had limitations in their maximum walking distance. In conclusion, clinically significant hip abnormalities develop in all MPS VI patients from very early in life, starting with deformities of the os ilium and acetabulum. Femoral head abnormalities occur later, most likely due to altered mechanical forces in combination with epiphyseal abnormalities due to glycosaminoglycan storage. The final shape and angle of the femoral head differs significantly between individual MPS VI patients and is difficult to predict.

Radiologic findings of Patterson-Lowry rhizomelic dysplasia in two sisters.

We report two sisters who have a rare skeletal abnormality termed Patterson-Lowry rhizomelic dysplasia. The typical findings of these cases on bone survey are isolated shortening and proximal metaphyseal enlargement and cupping of the bilateral humeri. The elder sister also has coxa vara deformity and dysplastic proximal femoral epiphyses on both sides. The younger sister has normal hip joint bones bilaterally, but her proximal femoral epiphyses are smaller than normal. All other bones of the sisters are of normal size and configuration. Our patients are two siblings, and their parents are first degree relatives, suggesting autosomal-recessive (AR) inheritance. The present patients help us to understand the genetic relationships and skeletal variabilities of this rare entity.

Posterior resection and fusion of a lumbosacral hemivertebra in a case of dipygus.

Dipygus or pygomelia is an incomplete form of twinning due to the incomplete division of the embryonic disc. This extremely rare condition consists in the presence of an accessory limb that generally inserts into the buttock or perineum. Associated anomalies such as duplication of the genitourinary or the intestinal tract are frequent, and recurrently appear associated with spinal anomalies such as congenital scoliosis due to hemivertebra. We present our experience with a 20-year-old girl, the first and only case of dipygus recorded and treated in Switzerland, who came to us complaining of increasing low back pain along with a progressive congenital scoliosis due to the presence of a hemivertebra between L5 and S1, which was removed in a single stage exclusively through a posterior approach.

Análisis descriptivo de la asimetría pélvica en una población asintomática / Descriptive analysis of pelvic asymmetry in an asymptomatic population

Introducción: La inclinación pélvica es evaluada clínicamente por su relación con patologías espinales. Pero hay pocas evidencias sobre la población asintomática para comparaciones. Objetivo: Analizar una población asintomática según las asimetrías pélvicas por fotogrametría. Material y métodos: 92 sujetos (18-35 años) fueron marcados en las espinas ilíacas anteriores y posteriores y fotografiados. El software Alcimage midió el ángulo de báscula pélvica. La normalidad probada por Kolmogorov; la prueba t y Wilcoxon para comprobar diferencias, la correlación medida por el coeficiente Pearson. Resultados: De los varones, 11.96% presentaran anteversión y 34.78% normalidad. De las mujeres, 38.04% anteversión y 15.22% normalidad. Los ángulos entre ilíacos para báscula bilateral no presentaron diferencia, pero hubo diferencia con predominancia de lado. Para báscula unilateral hubo diferencia entre ilíacos. Hubo buena correlación de predominancia versus anteversión y pobre para los ángulos de perfil. Los demás, débiles o sin significancia. Conclusión: La báscula no puede ser usada individualmente para caracterización de disfunción o patología pélvica.

Introduction: Pelvic tilt is clinically assessed based on its relationship with spinal conditions, but there is little evidence from the asymptomatic population for comparison purposes. Objective: To analyze an asymptomatic population focusing on pelvic asymmetries using photogrammetry. Material and methods: 92 subjects (18-35 years old) underwent marking of the anterior and posterior iliac spines and were photographed. Alcimage software was used to measure the pelvic tilt angle. Other tests included: the Kolmogorov normality test, t test, Wilcoxon test, and Pearson coefficient to measure the correlation. Results: 11.96% of males had anteversion and 34.78% normality; 38.04% of females had anteversion and 15.22% normality. Angles between iliacs for bilateral tilt showed no difference, but a difference was seen with the predominance of one side. For unilateral tilt a difference between iliacs was seen. Good correlation of predominance versus anteversion was observed, and correlation was poor for side angles. The rest showed a weak or non-significant correlation. Conclusion: Tilt cannot be used individually to characterize pelvic dysfunction or pathology.

Genetic analysis of the role of Alx4 in the coordination of lower body and external genitalia formation.

Although several syndromes include abnormalities of both the ventral body wall and external genitalia, the developmental bases of this correlation are largely unknown. Naturally occurring mutations in Aristaless-like 4 (Alx4, Strong's luxoid: Alx4Lst) have ventral body wall and pelvic girdle abnormalities. We sought to determine whether the development of the genital tubercle (GT) and its derivatives, the external genitalia, is affected by this mutation. We thus performed genetic and tissue labeling analyses in mutant mice. Alx4Lst/Lst mutants displayed hypoplasia of the dorsal GT and reduced expression of Fibronectin. We analyzed cell migration during GT formation by tissue labeling experiments and discovered that the cells located in the proximal segment of the umbilical cord (infra-umbilical mesenchyme) migrate toward the dorsal part of the GT. The Alx4Lst/Lst mutants also displayed augmented expression of Hh signal-related genes. Hence, we analyzed a series of combinatorial mutants for Alx4, Sonic hedgehog (Shh) and GLI-Kruppel family member 3 (Gli3). These phenotype-genotype analyses suggested a genetic interaction between Alx4 and Hh signaling during GT formation. Moreover, Hh gain-of-function mutants phenocopied some of these phenotypes. These observations reveal novel information regarding the pathogenic mechanisms of syndromic lower ventral body malformations, which are largely unknown.

Revision extension to the pelvis versus primary spinopelvic instrumentation in adult deformity: comparison of clinical outcomes and complications.

OBJECTIVE: To evaluate the outcomes and complications of patients with adult spinal deformity treated in a primary versus revision fashion with long fusions to the sacropelvis. METHODS: A retrospective review was performed of a multicenter consecutive series of patients with adult spinal deformity requiring fusion to the sacropelvis, either primarily or as revision, with minimum 2-year follow-up. Clinical (Scoliosis Research Society [SRS] 22 questionnaire) and radiographic parameters (including sagittal vertical axis [SVA], coronal Cobb angle, lumbar lordosis, and thoracic kyphosis) were compared between the groups. RESULTS: There were 63 patients who met inclusion criteria; mean patient age was 51.9 years, and mean follow-up was 43 months. Patients requiring primary fusion were older (58.0 years vs. 49.5 years, P=0.01) and at baseline had a lower SVA (2.1 cm vs. 6.8 cm, P=0.01) and greater thoracolumbar Cobb angle (51.2 degrees vs. 36.5 degrees, P=0.003). At last follow-up, patients undergoing primary fusion and patients undergoing revision treatment had similar SVA (2.9 cm vs. 1.8 cm, P=0.32) and lumbar lordosis (-42.3 degrees vs. -43.4 degrees, P=0.82); patients undergoing revision treatment had more favorable SRS 22 scores (3.65 vs. 3.14, P=0.005). There was no statistical difference in complication rates between the groups (44.4% vs. 35%, P=0.68). CONCLUSIONS: Patients requiring revision extension of instrumentation to the pelvis can be treated with the same expectation of radiographic and clinical success as patients treated primarily with fusion to the sacropelvis. The complication rate for the revision procedure is not insignificant and may be similar to a primary procedure that includes pelvic fixation.

Lobectomy of pulmonary metastasis of endometrial stromal sarcoma.

Pulmonary metastasis of low-grade endometrial stromal sarcoma is rare. A 61-year-old woman visited our hospital due to an abnormal chest shadow. Computed tomograhy showed a mass that was composed of a cystic and solid lesion, in the right lower lobe. She had undergone a combination of a hysterectomy and adnexectomy for a low-grade endometrial stromal sarcoma 57 months previously, and undergone adjuvant radiation therapy at the local site. To obtain a definitive diagnosis of the lung tumor, we performed lobectomy of the right lower lobe and lymph node dissection. To avoid possible dissemination, the tumor was resected not using video-assisted thoracic surgery but using thoracotomy. The pathologic diagnosis was pulmonary metastasis of the low-grade endometrial stromal sarcoma. Now, medroxyprogesterone acetate is being administered, and no signs of recurrence have been detected in the 24 months since the lung resection.

Acetabular fractures: the role of total hip replacement.

Total hip replacement (THR) after acetabular fracture presents unique challenges to the orthopaedic surgeon. The majority of patients can be treated with a standard THR, resulting in a very reasonable outcome. Technical challenges however include infection, residual pelvic deformity, acetabular bone loss with ununited fractures, osteonecrosis of bone fragments, retained metalwork, heterotopic ossification, dealing with the sciatic nerve, and the difficulties of obtaining long-term acetabular component fixation. Indications for an acute THR include young patients with both femoral head and acetabular involvement with severe comminution that cannot be reconstructed, and the elderly, with severe bony comminution. The outcomes of THR for established post-traumatic arthritis include excellent pain relief and functional improvements. The use of modern implants and alternative bearing surfaces should improve outcomes further.