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Cureus May 2024Ewing sarcoma is one of the small round blue cell tumors of childhood that typically affects bone. Recently, a subgroup of undifferentiated round-cell sarcomas has been...
Ewing sarcoma is one of the small round blue cell tumors of childhood that typically affects bone. Recently, a subgroup of undifferentiated round-cell sarcomas has been genetically identified as BCOR (B-cell Line 6 Corepressor)-altered sarcomas (BAS). We present a case of a six-year-old male child who presented with a chief complaint of shortness of breath and tachypnea and was found to have a large mediastinal mass concerning sarcoma. Preliminary biopsy results were positive for small round blue cells, possibly Ewing sarcoma. After six cycles of chemotherapy, with subsequent shrinkage of mediastinal mass, the patient was able to undergo wedge resection and excision of the mass with en bloc resection of the fifth and sixth rib, preserving his right lung. Final tissue pathology was positive for BAS. There have been only four reported cases of BAS of the chest wall and zero reported cases of primary tumor presentation of the lung, making this a rare presentation of the disease.
PubMed: 38840999
DOI: 10.7759/cureus.59731 -
Journal of Children's Orthopaedics Jun 2024Spinal muscular atrophy type 1 has a devastating natural course and presents a severe course marked by scoliosis and hip subluxation in nonambulatory patients....
PURPOSE
Spinal muscular atrophy type 1 has a devastating natural course and presents a severe course marked by scoliosis and hip subluxation in nonambulatory patients. Nusinersen, Food and Drug Administration-approved spinal muscular atrophy therapy, extends survival and enhances motor function. However, its influence on spinal and hip deformities remains unclear.
METHODS
In a retrospective study, 29 spinal muscular atrophy type 1 patients born between 2017 and 2021, confirmed by genetic testing, treated with intrathecal nusinersen, and had registered to the national electronic health database were included. Demographics, age at the first nusinersen dose, total administrations, and Children's of Philadelphia Infant Test of Neuromuscular Disorders scores were collected. Radiological assessments included parasol rib deformity, scoliosis, pelvic obliquity, and hip subluxation.
RESULTS
Mean age was 3.7 ± 1.1 (range, 2-6), and average number of intrathecal nusinersen administration was 8.9 ± 2.9 (range, 4-19). There was a significant correlation between Children's of Philadelphia Infant Test of Neuromuscular Disorders score and the number of nusinersen administration ( = 0.539, = 0.05). The correlation between Children's of Philadelphia Infant Test of Neuromuscular Disorders score and patient age ( = 0.361) or the time of first nusinersen dose ( = 0.39) was not significant ( = 0.076 and = 0.054, respectively). While 93.1% had scoliosis, 69% had pelvic obliquity, and 60.7% had hip subluxation, these conditions showed no significant association with patient age, total nusinersen administrations, age at the first dose, or Children's of Philadelphia Infant Test of Neuromuscular Disorders scores.
CONCLUSION
Disease-modifying therapy provides significant improvements in overall survival and motor function in spinal muscular atrophy type 1. However, progressive spine deformity and hip subluxation still remain significant problems in the majority of cases which would potentially need to be addressed.
PubMed: 38831860
DOI: 10.1177/18632521241235028 -
Journal of Children's Orthopaedics Jun 2024Congenital scoliosis is often associated with costal deformities, of which a bilateral bifid intrathoracic rib is very rare. The aim of this study was to retrospectively...
BACKGROUND
Congenital scoliosis is often associated with costal deformities, of which a bilateral bifid intrathoracic rib is very rare. The aim of this study was to retrospectively summarize the clinical manifestations, imaging characteristics, treatment strategies, and postoperative outcomes of five patients with bilateral bifid intrathoracic rib.
METHODS
We retrospectively reviewed the imaging findings and medical records of five pediatric patients (two girls, three boys) with bilateral bifid intrathoracic rib who were surgically treated for congenital kyphoscoliosis (mean age = 8 years). The clinical manifestations, imaging characteristics, treatment strategies, and postoperative outcome were summarized.
RESULTS
Four of five patients showed abnormalities from birth. All five patients presented with kyphoscoliosis and a fused vertebral body or lamina. The bilateral bifid intrathoracic rib was located at T2-3 in three patients, T7 in one patient, and T10 in one patient. Various congenital spinal deformities and multiple system malformations were present in all five patients. Three patients had preoperative neurological deficits. For corrective surgery, one patient received a traditional growing rod implantation, one patient underwent resection of a bony septum, and three patients underwent spinal osteotomy. One patient suffered complete paralysis of the lower limbs after surgery.
CONCLUSION
Bilateral bifid intrathoracic rib is a rare anomaly that typically occurs in patients with serious kyphoscoliosis. Bilateral bifid intrathoracic rib patients show similar clinical and radiological characteristics and are likely to exhibit neurological deficits before or following corrective surgery. Spinal surgeons should be aware of the high risk of permanent neurological complications related to surgery in these patients.
LEVEL OF EVIDENCE
level IV.
PubMed: 38831851
DOI: 10.1177/18632521241232304 -
Current Research in Physiology 2024Cervical spinal cord injury (CSI) often leads to impaired respiratory function, affecting the overall well-being of patients. This study aimed to investigate the...
BACKGROUND
Cervical spinal cord injury (CSI) often leads to impaired respiratory function, affecting the overall well-being of patients. This study aimed to investigate the influence of rib cage motion on inspiratory capacity in CSI patients.
METHODS
We conducted a study with 11 CSI patients, utilising respiratory inductance plethysmography (RIP). We measured ventilatory volume by spirometry concurrently with RIP. Participants were instructed to perform maximal inspiratory efforts. Inspiratory capacity (IC) was calculated from spirometry waveforms. We converted the respiratory waveforms of the chest and abdomen into inspiratory volume measured by a spirometer. The inspiratory volume measured by the chest sensor was defined as V (V), and the inspiratory volume measured by the abdominal sensor was defined as V (V). Subsequently, the relationships of IC with V and V were assessed.
RESULTS
The mean IC was 1.828 ± 0.459 L, with the mean V at 1.343 ± 0.568 L and the mean V at 0.485 ± 0.427 L. A significant correlation was observed between IC and V (r = 0.67, p = 0.02), indicating that rib cage motion significantly influences IC in CSI patients.
CONCLUSION
This study highlights the importance of rib cage motion in assessing inspiratory capacity in patients with CSI.
PubMed: 38831755
DOI: 10.1016/j.crphys.2024.100127 -
Translational Animal Science 2024The magnitude of physiological responses to a stressor can vary among individual goats within a herd; however, whether these differences can differentially affect meat...
The magnitude of physiological responses to a stressor can vary among individual goats within a herd; however, whether these differences can differentially affect meat quality is not known. This study was conducted to determine the influence of the magnitude of epinephrine response (ER) to acute stress on muscle metabolome and meat quality in goats. Male Spanish goats (6 mo old) were transported for 180 min. ( = 75 goats; 25 goats/d) to impose stress. Blood samples were obtained after transport for analysis of physiological responses. Goats were slaughtered using humane procedures and samples were collected for muscle metabolomics and meat quality analyses. The data obtained from blood and muscle/meat analysis were then categorized based on epinephrine concentrations into low (LE), medium (ME), and high (HE) ER groups ( = 12/ER group). The physiological and meat quality variables were analyzed as a Completely Randomized Design in SAS, and metabolomics data were analyzed using R software. Plasma glucose concentrations were significantly high in the HE group, low in the LE group, and intermediate in the ME group (< 0.05). However, leukocyte counts and cortisol, norepinephrine, blood urea nitrogen, and creatine concentrations were not different among the ER groups. Muscle (Longissimus dorsi) glycogen concentrations (15 min postmortem) were significantly higher ( < 0.05) in the ME and LE groups than in the HE group. However, postmortem Longissimus muscle pH and temperature (15 min and 24 h), 24 h calpastatin and desmin levels, and rib chop color (L*, a*, and b*), cooking loss, and Warner-Bratzler shear force values were unaffected by ER. Targeted metabolomics analysis of muscle (15 min) revealed that diacyl phosphatidylcholines (C38:0; 40:6) and sphingomyelin (C20:2) were significantly different ( < 0.05) among the ER groups, with the concentrations of these metabolites being consistently high in the LE group. These differential muscle metabolite concentrations suggest that ER can influence biochemical pathways associated with cell membrane integrity and signaling. ER had a significant effect on dopamine concentrations, with the levels increasing with increasing levels of ER. The results indicate that differences in epinephrine reactivity can influence selected physiological responses and muscle metabolites; however, it does not significantly influence meat quality attributes.
PubMed: 38827159
DOI: 10.1093/tas/txae078 -
Cureus May 2024Pneumorrhachis, a rare clinical entity, refers to the presence of air in the spinal canal. Air can enter the spinal canal through various pathways, including the lungs...
Pneumorrhachis, a rare clinical entity, refers to the presence of air in the spinal canal. Air can enter the spinal canal through various pathways, including the lungs and mediastinum (the space between the lungs), or directly from external sources due to trauma or infection. In rare cases, pneumorrhachis may result from repeated secondary Valsalva maneuvers, which is a complication of large-area pneumothorax. In this case report, we discuss a 36-year-old male patient who was involved in a high-intensity road accident. The injury assessment revealed significant findings including a large left pneumothorax, a right pneumothorax, multiple rib fractures, and the presence of pneumorrhachis. The entry of air into the spinal canal originated from the pleural space, likely through injuries to the parietal pleura. Rarely reported, closed thoracic trauma is an exceptional cause of pneumorrhachis. This unique mechanism of injury has been described in a limited number of publications addressing traumatic pneumorrhachis. The identification of pneumorrhachis in a traumatized patient should prompt further investigation to explore other potential injuries that may elucidate the formation of this intraspinal gas collection.
PubMed: 38826888
DOI: 10.7759/cureus.59437 -
JMIR Formative Research May 2024Rib fractures commonly result from traumatic injury and often require hospitalization for pain control and supportive pulmonary care. Although the use of mobile health...
Rib fractures commonly result from traumatic injury and often require hospitalization for pain control and supportive pulmonary care. Although the use of mobile health technology to share patient-generated health data has increased, it remains limited in patients with traumatic injuries. We sought to assess the feasibility of mobile health tracking in patients with rib fractures by using a smartphone app to monitor postdischarge recovery. We encountered patient, institutional, and process-related obstacles that limited app use. The success of future work requires the acknowledgment of these limitations and the use of an implementation science framework to effectively integrate technological tools for personalized trauma care.
PubMed: 38820574
DOI: 10.2196/52726 -
PloS One 2024The aims of this study were to predict carcass and meat traits, as well as the chemical composition of the 9th to 11th rib sections of beef cattle from portable NIR...
The aims of this study were to predict carcass and meat traits, as well as the chemical composition of the 9th to 11th rib sections of beef cattle from portable NIR spectra. The 9th to 11th rib section was obtained from 60 Nellore bulls and cull cows. NIR spectra were acquired at: P1 -center of Longissimus muscle; and P2 -subcutaneous fat cap. The models accurately estimated (P ≥ 0.083) all carcass and meat quality traits, except those for predicting red (a*) and yellow (b*) intensity from P1, and 12th-rib fat from P2. However, precision was highly variable among the models; those for the prediction of carcass pHu, 12th rib fat, toughness from P1, and those for 12th rib fat, a* and b* from P2 presented high precision (R2 ≥ 0.65 or CCC ≥ 0.63), whereas all other models evaluated presented moderate to low precision (R2 ≤ 0.39). Models built from P1 and P2 accurately estimated (P ≥ 0.066) the chemical composition of the meat plus fat, bones and, meat plus fat plus bones, except those for predicting the ether extract (EE) and crude protein (CP) of bones and the EE of Meat plus bones fraction from P2. However, precision was highly variable among the models (-0.08 ≤ R2 ≤ 0.86) of the 9th and 11th rib section. Those models for the prediction of dry matter (DM) and EE of the bones from P1; of EE from P1; and of EE, mineral matter (MM), CP from P2 of meat plus fat plus bones presented high precision (R2 ≥ 0.76 or CCC ≥ 0.62), whereas all other models evaluated presented moderate to low precision (R2 ≤ 0.45). Thus, models built from portable NIR spectra acquired at different points of the 9th to 11th rib section were recommended for predicting carcass and muscle quality traits as well as for predicting the chemical composition of this section of beef cattle. However, it is noteworthy, that the small sample size was one of the limitations of this study.
Topics: Cattle; Animals; Spectroscopy, Near-Infrared; Red Meat; Meat; Male; Regression Analysis; Female; Muscle, Skeletal
PubMed: 38820309
DOI: 10.1371/journal.pone.0303946 -
JCEM Case Reports Jun 2024Tumor-induced osteomalacia (TIO) is an exceedingly rare paraneoplastic condition characterized by hypophosphatemia, osteomalacia, fragility fractures, and fatigue. A...
Tumor-induced osteomalacia (TIO) is an exceedingly rare paraneoplastic condition characterized by hypophosphatemia, osteomalacia, fragility fractures, and fatigue. A 39-year-old man was assessed for hemoptysis, pathological rib fractures, and fatigue, and was found to have a chest mass with lung metastasis. Biopsy of the mass suggested high-grade epithelioid and spindle cell neoplasm. He was initially treated for soft tissue sarcoma with an ifosfamide-based regimen and developed Fanconi syndrome that resolved on cessation of ifosfamide. Serum phosphate remained low. A low tubular maximum reabsorption of phosphate to glomerular filtration rate ratio (TmP/GFR) indicated disproportionate phosphaturia, while a severely elevated fibroblast growth factor-23 (FGF23) level enabled a diagnosis of TIO. He was started on phosphate and calcitriol supplementation. Subsequent next-generation sequencing demonstrated a -fusion mutation, leading to reclassification of his malignancy to a sarcomatoid non-small cell lung carcinoma. He was switched to selpercatinib, a targeted -kinase inhibitor approved for locally advanced or metastatic -fusion-positive solid tumors. This induced tumor remission with subsequent normalization of his FGF23 levels and hypophosphatemia. Despite the presence of a confounding etiology like drug-induced Fanconi syndrome, persistence of hypophosphatemia should prompt a workup of TIO, especially in the presence of a tumor.
PubMed: 38817847
DOI: 10.1210/jcemcr/luae101 -
Injury Jul 2024There is a lack of studies focusing on long-term chest function after chest wall injury due to cardiopulmonary resuscitation (CPR). The purpose of this cross-sectional...
BACKGROUND
There is a lack of studies focusing on long-term chest function after chest wall injury due to cardiopulmonary resuscitation (CPR). The purpose of this cross-sectional study was to investigate long-term pain, lung function, physical function, and fracture healing after manual or mechanical CPR and in patients with and without flail chest.
METHODS
Patients experiencing out-of-hospital cardiac arrest between 2013 and 2020 and transported to Sahlgrenska University Hospital were identified. Survivors who had undergone a computed tomography (CT) showing chest wall injury were contacted. Thirty-five patients answered a questionnaire regarding pain, physical function, and quality of life and 25 also attended a clinical examination to measure the respiratory and physical functions 3.9 (SD 1.7, min 2-max 8) years after the CPR. In addition, 22 patients underwent an additional CT scan to evaluate fracture healing.
RESULTS
The initial CT showed bilateral rib fractures in all but one patient and sternum fracture in 69 %. At the time of the follow-up none of the patients had persistent pain, however, two patients were experiencing local discomfort in the chest wall. Lung function and thoracic expansion were significantly lower compared to reference values (FVC 14 %, FEV1 18 %, PEF 10 % and thoracic expansion 63 %) (p < 0.05). Three of the patients had remaining unhealed injuries. Patients who had received mechanical CPR in additional to manual CPR had a lower peak expiratory flow (80 vs 98 % of predicted values) (p=0.030) =0.030) and those having flail chest had less range of motion in the thoracic spine (84 vs 127 % of predicted) (p = 0.019) otherwise the results were similar between the groups.
CONCLUSION
None of the survivors had long-term pain after CPR-related chest wall injuries. Despite decreased lower lung function and thoracic expansion, most patients had no limitations in physical mobility. Only minor differences were seen after manual vs. mechanical CPR or with and without flail chest.
Topics: Humans; Male; Female; Cardiopulmonary Resuscitation; Cross-Sectional Studies; Middle Aged; Thoracic Wall; Aged; Out-of-Hospital Cardiac Arrest; Rib Fractures; Quality of Life; Tomography, X-Ray Computed; Survivors; Adult; Thoracic Injuries; Fracture Healing; Flail Chest; Sternum
PubMed: 38810570
DOI: 10.1016/j.injury.2024.111626