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.

Immunodeficiency, Centromeric Region Instability, and Facial Anomalies Syndrome (ICF) in a Boy with Variable Clinical and Immunological Presentations.

Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is a rare primary immunodeficiency disorder characterized by recurrent infections and low immunoglobulin levels due to variable combined immunodeficiency, and centromeric region instability, and facial dysmorphism. We describe a 12-year-old boy with recurrent respiratory tract infections, facial anomalies, scoliosis, and psychomotor retardation. He had recurrent pneumonia with low serum IgG and IgM levels during infancy and preschool age. Later at the age of 10, he developed recurrent ear infections. An IgA and IgM deficiency was found accompanied by a normal B-cell and T-cell count as well as an impaired candida-induced T-cell proliferation. Further evaluations revealed a missense mutation in the DNMT3B gene on chromosome 20. Chromosomal analysis showed a sunburst multi-radial feature on chromosome 1, which is a hallmark of ICF syndrome. The genetic mutation and chromosomal abnormality along with clinical findings are compatible with the diagnosis of ICF syndrome. To the best of our knowledge, this is the first time that scoliosis is observed in an ICF patient. The additional variable clinical symptoms in the case were the presence of spastic gait as well as hypogammaglobulinemia with immunoglobulin isotype switch at different ages.

Malformación arteriovenosa pélvica sintomática tratada con éxito mediante abordaje endovascular / Symptomatic pelvic arteriovenous malformation treated successfully with an endovascular approach

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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.

Repeated successful vaginal delivery in a pregnant woman with unrepaired ectopia vesicae and split pelvis: a case study.

Ectopia vesicae, or bladder exstrophy, is a rare malformation, more frequently found in males. Very few cases of pregnancy with unrepaired ectopia vesicae have been reported in literature. The majority of these pregnant women with ectopia vesicae have terminated their pregnancies by cesarean section due to malpresentation, preterm labor or other indications. Clemetson concluded that cesarean section was the preferable method of term delivery to avoid postpartum prolapse. We have a different opinion on this because we had an interesting case. A woman with unrepaired ectopia vesicae had two successful vaginal deliveries, in 2009 and 2019 respectively. She recovered well and did not have any symptoms or signs of pelvic organ prolapse (POP) so far. CASE PRESENTATION: Let us present this woman with ectopia vesicae who had four pregnancies; two spontaneous abortions and two vaginal deliveries. In 2009, she had a successful vaginal delivery at Yantai Harbor Hospital where the first author worked at that time. She met the first author again surprisingly, during her third trimester in 2019. She had a spacious pelvis and pendulous abdomen. In this fourth pregnancy, the fetus changed its presentation frequently. Still, she had the second vaginal delivery successfully. She recovered fully after delivery and did not have any symptoms or signs of POP. As far as we know, this is the first case that a patient with ectopia vesicae who has been observed for such a long time after multiple vaginal deliveries. CONCLUSIONS: Doctors must evaluate the risk of vaginal delivery or cesarean section and consider maternal-neonatal health. Prior to this, women with repaired or unrepaired ectopia vesicae usually delivered their babies by cesarean section. Our practice shows that vaginal delivery is also a safe and feasible choice for some of these patients, especially for those with unrepaired, mild types of ectopia vesicae who experience no other dangerous or uncomfortable symptoms.

Classification of the "human tail": Correlation between position, associated anomalies, and causes.

INTRODUCTION: Numerous case reports have indicated that the "human tail" is not always a harmless protrusion but can be associated with anomalies such as occult dysraphic malformations. However, the definition and classification of this anomaly have not been discussed. A prevailing hypothesis is that the "human tail" is a residual embryonic tail. Herein, we attempted to classify and define the human tail and investigate the frequency of this anomaly. MATERIALS AND METHODS: We first defined the human tail as a protrusion on the dorsal side of the lumbar, sacrococcygeal, and para-anal regions identified after birth. We collected case reports written in English, Japanese, French, German, and Italian that were published from the 1880s to the present. RESULTS: We discovered two important findings: (a) the cause of this anomaly may differ even though the "tails" resemble each other closely in appearance and (b) its position tends to be correlated with the type of anomaly and its associated cause. We propose a new classification of the human tail based on these findings. CONCLUSION: Our classification may facilitate more accurate treatment and precise case descriptions of the human tail.

A newly recognized multiple malformation syndrome with caudal regression associated with a biallelic c.402G>A variant in TBX4.

The T-box4 (TBX4) gene (OMIM *601719) belongs to the T-box family of transcription regulators that share a conserved homology domain and are expressed at specific sites during various stages of embryonic development. Tbx4 has been found to be a crucial transcriptional regulator in embryonic hindlimb development in animal models. Monoallelic variants in the TBX4 gene are reported to be associated with skeletal defects of the pelvis and lower limbs. We report here a fetus with a novel multiple malformation syndrome associated with sacrococcygeal agenesis, bilateral lower limb aplasia, hypoplastic left heart, bilateral lung hypoplasia, hydroureteronephrosis, and nonimmune fetal hydrops, found to have a homozygous nonsense variant in the TBX4 gene. We propose that biallelic variants in the TBX4 gene are associated with a severe syndromic phenotype of sacrococcygeal agenesis and lower limb reduction defects.

Congenital pelvic skeletal anomalies: Clinical and radiographic evaluation of newborns with gastrointestinal malformation.

BACKGROUND: Congenital pelvic skeletal anomalies (CPSA) may appear as isolated defects or in association with other anomalies like congenital malformations of the digestive system (CMDS). Minor CPSA in non-syndromic patients are often overlooked. We aimed to assess the frequency of CPSA in newborns with CMDS to review the diagnostic approaches. STUDY DESIGN: A retrospective review of medical records of 201 newborns who underwent X-rays for different neonatal indications was conducted. In 122 patients CMDS were diagnosed and classified according to the ICD-10 classification; 79 non-CMDS patients acted as controls. Pelvic skeletal segments were examined by X-rays. RESULTS: Patients with CMDS, showed a higher risk of CPSA (Odds ratio 2.89; 95% CI 1.34 6.23) and other associated malformations in comparison to non-CMDS patients. Newborns with malformations of the large intestine have the highest risk of adjacent CPSA (48%), as it is a developmental defect originating from the same somite. In addition to skeletal agenesis/hypoplasia, we reported dysmorphic and bifid vertebras, trident ileum, and elongated neural arches. CONCLUSIONS: The high incidence of CPSA in CMDS suggests performing a routine radiographic pelvic evaluation in cases of CMDS in order to identify complex phenotypes that could originate from the same developmental field.

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.

Managing a Pregnancy With Maternal Amelia.

INTRODUCTION: Amelia, the complete absence of a limb, presents various management issues in pregnancy and delivery. CASE: A woman with amelia of both lower limbs and flipper-like upper limb buds (phocomelia) presented in her first pregnancy at 19 weeks of gestation. Challenging issues encountered in the care of the patient included venous access, reliable blood pressure measurement, recommendations regarding mode of delivery, and preparation for caring for the child. The patient had abnormalities of the pelvis but an adequate midpelvis, so she was able to deliver vaginally without complication. CONCLUSION: Careful planning to allow necessary modification of intrapartum management can allow for normal vaginal birth for a patient with severe limb reduction abnormalities such as amelia and phocomelia.

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.

Relative pelvic version: an individualized pelvic incidence-based proportional parameter that quantifies pelvic version more precisely than pelvic tilt.

BACKGROUND CONTEXT: Pelvic tilt (PT) is used as an indicator of pelvic version with increased values indicating retroversion and disability. The concept of using PT solely as an absolute numerical value can be misleading, especially for the patients with pelvic incidence (PI) values near the upper and lower normal limits. Relative pelvic version (RPV) is a PI-based individualized measure of the pelvic version. Relative pelvic version indicates the individualized spatial orientation of the pelvis relative to the ideal sacral slope as defined by the magnitude of PI. PURPOSE: The aim of this study was to compare RPV and PT for their ability to predict mechanical complications and their correlations with health-related quality of Life (HRQoL) scores. STUDY DESIGN: A retrospective analysis of a prospectively collected data of adult spinal deformity patients was carried out. Mechanical complications (proximal junctional kyphosis or proximal junctional failure, distal junctional kyphosis or distal junctional failure, rod breakage, and implant-related complications) and HRQoL scores (Oswestry Disability Index [ODI], Core Outcome Measures Index [COMI], Short Form-36 Physical Component Summary [SF-36 PCS], and Scoliosis Research Society 22 Spinal Deformity Questionnaire [SRS-22]) were used as outcome measures. METHODS: Inclusion criteria were ≥4 levels fusion, and ≥2-year follow-up. Correlations between PT, RPV, PI, and HRQoL were analyzed using Pearson correlation coefficient. Pelvic incidence values and mechanical complication rates in RPV subgroups for each PT category were compared using one-way analysis of variance, Student t test, and chi-squared tests. Predictive models for mechanical complications with RPV and PT were analyzed using binomial logistic regressions. RESULTS: A total of 222 patients (168 women, 54 men) met the inclusion criteria. Mean age was 52.2±19.3 (18-84) years. Mean follow-up was 28.8±8.2 (24-62) months. There was a significant correlation between PT and PI (r=0.613, p<.001), threatening the use of PT to quantify pelvic version for different PI values. Relative pelvic version was not correlated with PI (r=-0.108, p>.05), being able to quantify pelvic version for all PI values. Compared with PT, RPV had stronger partial correlations with ODI, COMI, SF-36 PCS, and SRS-22 scores (p<.05). Discrimination performance assessed by area under the curve, percentage accuracy in classification, true positive rate, true negative rate, and positive and negative predictive values was better for the model with RPV than for PT. For average PI sizes, the agreement between RPV and PT were moderate (0.609, p<.001), whereas the agreement in small and large PI sizes were poor (0.189, p>.05; -0.098, p>.496, respectively). When analyzed by RPV, each PT "0," "+," and "++" category was further divided into two or three distinct subgroups of patients having different PI values (p=.000, p=.000, and p=.029, respectively). Relative pelvic version subgroups within the same PT category displayed different mechanical complication rates (p=.000, p=.020, and p=.019, respectively). CONCLUSIONS: Pelvic tilt may be insufficient or misleading in quantifying normoversion for the whole spectrum of PI values when used as an absolute numeric value in conjunction with previously reported population-based average thresholds of 20 and 30 degrees. Relative pelvic version offers an individualized quantification of ante-, normo-, and retroversion for all PI sizes. Schwab PT groups were found to constitute inhomogeneous subgroup of patients with different mean PI values and mechanical complication rates. Compared with PT, RPV showed a greater association with both mechanical complications and HRQoL.