-
Spinal Cord Jun 2024Cross-sectional study.
STUDY DESIGN
Cross-sectional study.
OBJECTIVES
To evaluate etiologic factors associated with spinal cord injury (SCI) severity and to identify predictive factors of reduction in SCI severity in six countries.
SETTING
SCI centers in Bangladesh, India, Malaysia, Nepal, Sri Lanka, and Thailand.
METHODS
Data from centers collected between October 2015 and February 2021 were analyzed using descriptive statistics and logistic regression.
RESULTS
Among 2634 individuals, the leading cause of SCIs was falls (n = 1410, 54%); most occurred from ≥1 meter (n = 1078). Most single-level neurological injuries occurred in the thoracic region (n = 977, 39%). Greater than half of SCIs (n = 1423, 54%) were graded American Spinal Injury Association Impairment Scale (AIS) A. Thoracic SCIs accounted for 53% (n = 757) of all one-level AIS A SCIs. The percentage of thoracic SCIs graded AIS A (78%) was significantly higher than high cervical (52%), low cervical (48%), lumbar (24%), and sacral (31%) SCIs (p < 0.001). Regression analyses isolated predictive factors both of SCI severity and inpatient improvement. Four factors predicted severity: age, neurological level, etiology, and country of residence. Four factors predicted improvement: age, neurological level, AIS grade on intake, and country of residence.
CONCLUSIONS
Findings can be used by healthcare providers and public health agencies in these countries to inform the public of the risk of SCI due to falls. Future studies should examine the social and occupational milieux of falls. Country-to-country comparisons of prehospital and inpatient care are also justified. Fall prevention policies can encourage the use of safety equipment when performing tasks at heights ≥1 meter.
PubMed: 38914754
DOI: 10.1038/s41393-024-01003-7 -
Diseases of the Colon and Rectum Jun 2024Pilonidal sinus disease is a highly morbid condition characterized by the formation of chronic sinus tracts throughout the sacrococcygeal region. Despite its commonality...
BACKGROUND
Pilonidal sinus disease is a highly morbid condition characterized by the formation of chronic sinus tracts throughout the sacrococcygeal region. Despite its commonality and strong association with family history, there is no prior investigation of genetic risk factors for pilonidal sinus disease.
OBJECTIVE
To identify genetic risk factors for pilonidal sinus disease.
DESIGN
Genome-wide association study.
SETTINGS
The United Kingdom Biobank, FinnGen Biobank, and PennMedicine Biobank.
PATIENTS
There were 772,072 participants.
MAIN OUTCOME MEASURE
Genome-wide significant variants (p < 5x10 -8) were mapped to genes using physical distance and gene expression in skin. Genetic correlation between pilonidal sinus disease and morphometric, androgen-driven, and hair phenotypes was estimated with LD score regression. Finally, a genome-first approach to rare, predicted deleterious variants in hair shaft genes TCHH, PADI3, and TGM3 was conducted for association with pilonidal sinus disease via PennMedicine Biobank.
RESULTS
Genome-wide association study comprised of 2,835 individuals with pilonidal sinus disease identified 5 genome-wide significant loci, prioritizing HDAC9, TBX15, WARS2, RP11-293M10.1, PRKAR1B, TWIST1, GPATCH2L, NEK9, and EIF2B2, as putative causal genes; several of these genes have known roles in balding and hair patterning. There was significant correlation between the genetic background of pilonidal sinus disease and that of the androgen-driven hair traits male pattern baldness and young age at first facial hair. In a candidate analysis of genes associated with syndromic hair disorders, rare coding variants in TCHH, a monogenic cause of uncombable hair syndrome, were associated with increased prevalence of pilonidal sinus disease (OR 4.81 [5% CI, 2.06-11.2]).
LIMITATIONS
This study is limited to European ancestry. However, because there is a higher incidence of pilonidal sinus disease in men of European ancestry, this analysis is focused on the at-risk population.
CONCLUSION
Genetic analysis of pilonidal sinus disease identified shared genetic architecture with hair biology and androgen-driven traits. As the first study investigating the genetic basis of pilonidal sinus disease, this provides biological insight into the long-appreciated connection between the disease state, male gender, and hair. See Video abstract.
PubMed: 38902823
DOI: 10.1097/DCR.0000000000003308 -
International Journal of Surgery Case... Jul 2024Cystic lesions in the retrorectal space include developmental abnormality, inflammatory process, and tumor-relevant cysts. Among them, the tailgut cyst is the most...
INTRODUCTION AND IMPORTANCE
Cystic lesions in the retrorectal space include developmental abnormality, inflammatory process, and tumor-relevant cysts. Among them, the tailgut cyst is the most common lesion which is featured by the complex epithelium lining the wall. It is generally accepted that tailgut cysts are embryonic residues and are mostly benign, but there are also reports about malignant transformation and even metastasis.
CASE PRESENTATION
A 44-year-old female complained a sacrococcygeal discomfort more than one year. The imaging diagnosis was an infectious cyst. After surgery, a solid region was defined in a cyst. Morphologically, the region was composed of bland epithelia forming glandular or ribbon-like structure, with round nuclei and fine chromatin. Immunohistochemically, the cells were positive for CK7, CD56 and synaptophysin. The Ki-67-positive cells were about 1 %. The final diagnosis is a low-grade neuroendocrine tumor arising in a tailgut cyst. The patient was living without recurrence by the follow-up of 20 months after surgery.
CLINICAL DISCUSSION
By reviewing the previously reported NET arising from tailgut cysts, we summarized 29 cases of neuroendocrine neoplasms that reported detailed information, and the majority are women. We found that the higher-grade tumor presented a higher tendency of distant metastasis or recurrence after surgery. Complete resection and full evaluation by pathologists are necessary to get a correct diagnosis and avoid disease progression.
CONCLUSION
We reported the rare case of NET G1 arising from a tailgut cyst and reviewed relevant reports, in order to broaden differential diagnoses when an isolated mass is identified in the retrorectal space.
PubMed: 38889516
DOI: 10.1016/j.ijscr.2024.109912 -
Cureus May 2024Introduction Congenital malformation studies serve several purposes, including establishing baseline rates, monitoring changes over time, exploring the origins of these...
Introduction Congenital malformation studies serve several purposes, including establishing baseline rates, monitoring changes over time, exploring the origins of these defects, and helping in planning health services. Increasing public awareness about pediatric surgical interventions is another goal of these studies. However, the impact of congenital malformations is often underestimated in developing countries due to insufficient healthcare data and diagnostic facilities, particularly in rural areas. Families affected by the birth of a child with congenital malformations face significant stress and hardship. Methods The main aims of this study were to evaluate the clinical pattern of congenital structural malformations in our region (Uttarakhand, India), identify possibly associated factors of congenital malformations, and find out the immediate outcome of congenital malformations in enrolled participants. Results Among a total of 150 cases, 73 (48.7%) cases were inborn, whereas 77 (51.3%) cases were outborn. Investigation of congenital malformation revealed cleft lip or palate in 37 (24.7%) cases, congenital heart disease (CHD) in 33 (22%) cases, meningomyelocele (MMC) in 18 (12.0%) cases, anorectal malformation (ARM) in 11 (7.3%) cases, hypospadias in 10 (6.7%) cases, congenital talipes equinovarus (CTEV) in nine (6.0%) cases, tracheoesophageal fistula (TEF) in nine (6.0%) cases, polydactyly in seven (4.7%) cases, pelviureteric junction obstruction (PUJO) in four (2.7%) cases, duodenal atresia in three (2.0%) cases, midgut volvulus in three (2.0%) cases, umbilical sinus in two (1.3%) cases, sacrococcygeal teratoma (SCT) in one (0.7%) case, phimosis in one (0.7%) case, microtia in one (0.7%) case, and micrognathia in one (0.7%) case. Mortality was observed in 11 (7.3%) cases, whereas 105 (70%) cases were successfully discharged. Among 11 mortality cases, the cause of death was CHD in seven (63.2%) cases, TEF+CHD in two (18.1%) cases, MMC in one (9%) case, and duodenal atresia in one (9%) case. Conclusion Contrary to the common belief that advanced maternal age of greater than 35 years is a major cause, 86.6% of the congenital structural anomalies in our hospital-based study in Uttarakhand occurred in babies of mothers belonging to the age group of 18-30 years. Also, consanguineous marriage was observed in only 3.3% of cases, indicating that it may not be a major contributing factor causing congenital structural malformations in our region. External congenital anomalies are most commonly observed (60.7%), with cleft lip and cleft palate being the most common. The most frequently observed internal congenital anomaly is CHD (22%) followed by gastrointestinal (GI) (18.6%) and urinary anomalies (10.1%). Death and referral are commonly seen in CHD.
PubMed: 38883135
DOI: 10.7759/cureus.60375 -
World Neurosurgery Jun 2024To compare traumatic spinal injury patterns between motorcyclists and occupants of other nonheavy motor vehicles using data from the National Spinal Cord and Column...
Comparison of Traumatic Spinal Fracture Patterns Between Motorcyclists and Occupants of Other Nonheavy Motor Vehicles: A Report from the National Spinal Cord and Column Injury Registry of Iran.
OBJECTIVE
To compare traumatic spinal injury patterns between motorcyclists and occupants of other nonheavy motor vehicles using data from the National Spinal Cord and Column Injury Registry of Iran.
METHODS
All drivers/riders and passengers of motorcycles, cars, pick-up trucks, and vans registered between January 2017 to July 2023, met the inclusion criteria for the present study. The logistic regression models were used to compare the patterns of vertebral fracture between the 2 groups.
RESULTS
One thousand seven hundred twenty-six spinal fracture patients were identified, 385 (22.3%) motorcyclists and 1341 (77.7%) car occupants with mean ages 33.2 ± 14.3 and 36.1 ± 13.6 years, respectively (P < 0.001). Only 45 (11.7%) motorcyclists used helmets, whereas 856 (63.8%) car occupants used seat belts (P < 0.001). The average numbers of fractured vertebrae were 3.9 ± 1.4 and 3.7 ± 1.1 among car occupants and motorcyclists, respectively (P = 0.004). The proportions of motorcyclists and car occupants with injuries in each spinal region are as follows: lumbar (50.5% of motorcyclists vs. 40.4% of car occupants; P = 0.003), thoracic (39.2% vs. 30.9%; P = 0.01), cervical (24.3% vs. 37.0%; P < 0.001), and sacral (1.3% vs. 7.5%; P < 0.001). The AO Spine type C injuries were present in 6.1% of motorcyclists and 10.1% of car occupants (P = 0.03).
CONCLUSIONS
Motorcyclists were younger, less educated, had a higher proportion of males, and less commonly used safety devices than car occupants. The most commonly fractured spine region among both groups was the lumbar region. The cervical and sacral vertebrae fractures were significantly more common in car occupants, whereas the thoracic and lumbar vertebrae fractures were significantly more common in motorcyclists.
PubMed: 38871289
DOI: 10.1016/j.wneu.2024.06.014 -
Spine Surgery and Related Research May 2024Studies describing the relationship between the hip and spine have reported that corrective spinal surgery for adult spinal deformity (ASD) affects the orientation of...
INTRODUCTION
Studies describing the relationship between the hip and spine have reported that corrective spinal surgery for adult spinal deformity (ASD) affects the orientation of the acetabulum. However, the extent to which spinal correction in ASD affects acetabular anteversion in the standing position is unclear, especially after total hip arthroplasty, for which dislocation is a concern. The purpose of this study was to evaluate changes in anterior acetabular coverage in the upright position due to extensive correction surgery for ASD.
METHODS
Thirty-six consecutive patients who had undergone spinal corrective surgery from the thoracolumbar region to the pelvis were enrolled and evaluated. The ventral-central-acetabular (VCA) angle and anterior acetabular head index (AAHI) were measured with a false-profile view to evaluate the relationship between acetabular anteversion in the standing position and spinopelvic parameters before and after surgery. The spinopelvic parameters measured included thoracic kyphosis, pelvic incidence, pelvic tilt (PT), sacral slope, lumbar lordosis (LL), sagittal vertical axis, and global tilt.
RESULTS
The VCA angle and AAHI were significantly increased after spinal deformity correction (p<0.001). The changes in LL and PT were correlated with the VCA angle (LL: right, ρ=0.56; left, ρ=0.55, p<0.001; PT: right, ρ=-0.59; left, ρ=-0.64, p<0.001) and AAHI (LL: right, ρ=0.51; left, ρ=0.58, p<0.01; PT: right, ρ=-0.52; left, ρ=-0.59, p<0.01), respectively. Linear regression analysis revealed that a 10° increase in LL results in 1.4°-1.9° and 1.6%-2% increases in the VCA angle and AAHI, respectively.
CONCLUSIONS
Surgical correction for ASD significantly affects sagittal spinopelvic parameters, resulting in increased acetabular anteversion. The anterior coverage of the acetabulum in the postoperative standing position could be predicted with the intraoperatively measured LL, and evaluation using a false-profile was considered useful for treating ASD, particularly in patients after total hip arthroplasty.
PubMed: 38868798
DOI: 10.22603/ssrr.2023-0273 -
Cureus May 2024Perineural cysts, also known as Tarlov cysts, are rare benign cerebrospinal fluid-filled cysts usually located at the junction of the posterior nerve root and the dorsal...
Perineural cysts, also known as Tarlov cysts, are rare benign cerebrospinal fluid-filled cysts usually located at the junction of the posterior nerve root and the dorsal root ganglion and are usually asymptomatic. They are most commonly found in the sacral region and are uncommon in the cervical spine. Despite their rarity, symptomatic cases may present with neurological symptoms due to the compression of adjacent neurological structures. Symptomatic cervical perineural cysts are extremely rare, and there is limited consensus on management strategies. We present the case of a 56-year-old woman who presented with a four-week history of radicular symptoms involving the right C7 and C8 nerve roots, including neck and arm pain, paresthesias, and mild triceps weakness. Magnetic resonance imaging revealed two perineural cysts at the C6-C7 and C7-T1 levels. A conservative approach was chosen with a 14-day course of oral corticosteroids, use of a soft collar, and activity restrictions. Following this conservative treatment, a significant reduction in symptoms and complete neurological recovery were achieved. This case highlights the efficacy of conservative approaches in selected cases of mildly symptomatic cervical perineural cysts and contributes to a better understanding of management strategies for this condition.
PubMed: 38854291
DOI: 10.7759/cureus.59902 -
International Journal of Surgery Case... Jul 2024Sacrococcygeal teratoma is a rare extragonadal germ cell tumor occurring at the lower end of the back. It is congenital, and can be diagnosed in utero or just after...
INTRODUCTION AND IMPORTANCE
Sacrococcygeal teratoma is a rare extragonadal germ cell tumor occurring at the lower end of the back. It is congenital, and can be diagnosed in utero or just after birth. These tumors are sporadic in nature, more common in females than in males. They can be solid, cystic or a mixture of the two in consistency. Authors present this case to share their experience because these congenital tumors are rare and a lapse in appropriate management can be devastating because of chances of recurrence and the possibility of a malignant nature of the disease.
CASE PRESENTATION
Authors in this case present a baby that was referred to their center 5 days post vaginal delivery with a huge mass on the sacrococcygeal region. MRI revealed sacrococcygeal teratoma type II. Wide local excision was done. Tumor margins were microscopically negative. The patient recovered well and was discharged. The patient did not require adjuvant treatment.
CLINICAL DISCUSSION
Routine obstetric ultrasound can diagnose sacrococcygeal teratoma with 100 % sensitivity. Fetuses with tumors <5 cm in size can be delivered vaginally. Tumors larger than that should be delivered at term through cesarean section. High risk sacrococcygeal teratomas can be delivered at 28 weeks of gestation by cesarean section followed by ex-utero intrapartum therapy. MRI is useful to assess the intrapelvic extent of the tumor and to plan management. Surgical intervention should be done after delivery.
CONCLUSION
Intrauterine diagnosis is not an indication for termination of pregnancy. Surgical resection with negative margins provides a cure. Histological examination of the tumor is mandatory. For malignant sacrococcygeal teratomas, adjuvant chemotherapy is necessary for positive tumor margin after surgical resection. Positive margins may require chemotherapy. Neoadjuvant chemotherapy may be used for tumor debulking prior to surgery if the tumor infiltrates neighboring structures or is metastatic.
PubMed: 38852569
DOI: 10.1016/j.ijscr.2024.109895 -
Veterinarni Medicina May 2024The aim of this study was to identify the presence of transitional lumbosacral and sacrocaudal vertebrae in domestic mammals, to realise a comparative analysis...
The aim of this study was to identify the presence of transitional lumbosacral and sacrocaudal vertebrae in domestic mammals, to realise a comparative analysis of the localisation and conformation of this abnormal condition. The research included the following species: cattle - 29 specimens, sheep - 32 specimens, horse - 31 specimens, pig - 26 specimens, rabbit - 33 specimens, dog - 89 specimens and cat - 57 specimens. The spine of the animals was analysed post-mortem or radiologically. The investigations revealed the presence of transitional vertebrae as follows: in cattle - 3 cases (8.7%), all being about the lumbarisation of the first sacral vertebra (S1); in sheep - 3 cases (9.37%), two lumbarisation cases of S1 and one caudalisation of S4 (the last sacral vertebra); in horses - 4 cases (12.9%), all about the sacralisation of Cd1 (first caudal vertebra); in pigs - 3 cases (11.53%), two lumbarisation cases of S1 and one sacralisation of Cd1; in rabbits - 3 cases (9.09%), a lumbar supernumerary vertebra (L8) and two cases of caudalisation of S4; in dogs - 4 cases (4.49%), a lumbar supernumerary vertebra (L8) and 3 cases of sacralisation of the last lumbar vertebra (L7 or L8); in cats - 3 cases (5.26%), two sacralisation cases of the last lumbar vertebra and one case of caudalisation of the last sacral vertebra (S3). A strong lumbarisation process was observed in ruminants (especially in cattle), then in pigs, the sacralisation being prevalent in carnivores. The sacrocaudal transitional vertebra was predominant in horses. No evident influence of the sex and age of the animals was observed.
PubMed: 38841130
DOI: 10.17221/102/2023-VETMED -
Cureus May 2024Juvenile systemic sclerosis (JSSc) is a rare autoimmune disorder that primarily affects children and adolescents. It is thought to be caused by a confluence of...
Juvenile systemic sclerosis (JSSc) is a rare autoimmune disorder that primarily affects children and adolescents. It is thought to be caused by a confluence of immunological, environmental, and genetic variables. The disease is characterized by excessive collagen production. It can result in symptoms such as shortness of breath, chest pain, difficulty swallowing, high blood pressure, and kidney problems. Although calcinosis cutis is common in systemic sclerosis, it is very rare in JSSc. We report the case of a 14-year-old female who presented with complaints of breathlessness for four days and multiple lesions in the sacral region for two months. She underwent surgical excision for calcinosis cutis in dependent regions. Early diagnosis and treatment of the condition are of immense importance in preventing mortality.
PubMed: 38841009
DOI: 10.7759/cureus.59729