-
Journal of the Neurological Sciences Jun 2024
PubMed: 38914513
DOI: 10.1016/j.jns.2024.123100 -
Autophagy Jun 2024Mutations in the (DDHD domain containing 2) gene cause autosomal recessive spastic paraplegia type 54 (SPG54), a rare neurodegenerative disorder characterized by the...
Mutations in the (DDHD domain containing 2) gene cause autosomal recessive spastic paraplegia type 54 (SPG54), a rare neurodegenerative disorder characterized by the early childhood onset of progressive spastic paraplegia. DDHD2 is reported as the principal brain triacylglycerol (TAG) lipase whose dysfunction causes massive lipid droplet (LD) accumulation in the brains of SPG54 patients. However, the precise functions of DDHD2 in regulating LD catabolism are not yet fully understood. In a recent study, we demonstrate that DDHD2 interacts with multiple members of the Atg8-family proteins (MAP1LC3/LC3s, GABARAPs), which play crucial roles in lipophagy. DDHD2 possesses two LC3-interacting region (LIR) motifs that contribute to its LD-eliminating activity. Moreover, DDHD2 enhances the colocalization between LC3B and LDs to promote lipophagy. LD·ATTEC, a compound that tethers LC3 to LDs to enhance their macroautophagic/autophagic clearance, effectively counteracts DDHD2 deficiency-induced LD accumulation. These findings provide insights into the dual functions of DDHD2 as a TAG lipase and cargo receptor for lipophagy in neuronal LD catabolism, and also suggest a potential therapeutic approach for treating SPG54 patients.
PubMed: 38909316
DOI: 10.1080/15548627.2024.2356487 -
Journal of Cardiothoracic Surgery Jun 2024A left thoracotomy approach is anatomically appropriate for childhood aortic coarctation; however, the pediatric femoral arteriovenous diameters are too small for...
BACKGROUND
A left thoracotomy approach is anatomically appropriate for childhood aortic coarctation; however, the pediatric femoral arteriovenous diameters are too small for cardiopulmonary bypass cannulation. We aimed to determine the safety of a partial cardiopulmonary bypass through the main pulmonary artery and the descending aorta in pediatric aortic coarctation repair.
METHODS
We retrospectively reviewed 10 patients who underwent coarctation repair under partial main pulmonary artery-to-descending aorta cardiopulmonary bypass with a left thoracotomy as the CPB group. During the same period, 16 cases of simple coarctation of the aorta repair, with end-to-end anastomosis through a left thoracotomy without partial CPB assistance, were included as the non-CPB group to evaluate the impact of partial CPB.
RESULTS
The median age and weight at surgery of the CPB group were 3.1 years (range, 9 days to 17.9 years) and 14.0 (range, 2.8-40.7) kg, respectively. Indications for the partial cardiopulmonary bypass with overlap were as follows: age > 1 year (n = 7), mild aortic coarctation (n = 3), and predicted ischemic time > 30 min (n = 5). Coarctation repair using autologous tissue was performed in seven cases and graft replacement in three. The mean partial cardiopulmonary bypass time, descending aortic clamp time, and cardiopulmonary bypass flow rate were 73 ± 37 min, 57 ± 27 min, and 1.6 ± 0.2 L/min/m, respectively. Urine output during descending aortic clamping was observed in most cases in the CPB group (mean: 9.1 ± 7.9 mL/kg/h), and the total intraoperative urine output was 3.2 ± 2.7 mL/kg/h and 1.2 ± 1.5 mL/kg/h in the CPB and non-CPB group, respectively (p = 0.020). The median ventilation time was 1 day (range, 0-15), and the intensive care unit stay duration was 4 days (range, 1-16) with no surgical deaths. No major complications, including paraplegia or recurrent coarctation, occurred postoperatively during a median observation period of 8.1 (range, 3.4-17.5) years in the CPB group. In contrast, reoperation with recurrent coarctation was observed in 2 cases in the non-CPB group (p = 0.37).
CONCLUSIONS
Partial cardiopulmonary bypass through the main pulmonary artery and descending aorta via a left thoracotomy is a safe and useful option for aortic coarctation repair in children.
Topics: Humans; Aortic Coarctation; Retrospective Studies; Cardiopulmonary Bypass; Child, Preschool; Child; Infant; Thoracotomy; Male; Female; Adolescent; Infant, Newborn; Aorta, Thoracic; Pulmonary Artery; Treatment Outcome
PubMed: 38909233
DOI: 10.1186/s13019-024-02849-x -
BMC Veterinary Research Jun 2024This study aims to describe a rare case of primary ureteral hemangiosarcoma, in which surgical intervention preserved the kidney and ureter after tumor removal.
BACKGROUND
This study aims to describe a rare case of primary ureteral hemangiosarcoma, in which surgical intervention preserved the kidney and ureter after tumor removal.
CASE PRESENTATION
A 13-year-old, neutered male dog, weighing 14 kg, mixed-breed, presented with apathy, anorexia, acute-onset vomiting, and abdominal discomfort during the physical examination. Ultrasonography and pyelography revealed a right-sided dilation of the renal pelvis and ureter due to complete obstruction in the middle third of the ureter. A mass obstructing the lumen of the right ureter was completely resected, and ureteral suturing was performed, preserving the integrity of the involved structures. Histopathology confirmed primary ureteral hemangiosarcoma. Due to the local and non-invasive nature of the mass, chemotherapy was not initiated. The patient's survival was approximately two years, and normal renal function was preserved throughout this period.
CONCLUSIONS
Considering this type of tumor in the differential diagnosis of upper urinary tract obstructive disorders. Furthermore, the preservation of the ureter and kidney is a suitable therapeutic option after surgical resection of non-invasive tumors.
Topics: Animals; Male; Dogs; Hemangiosarcoma; Dog Diseases; Ureteral Neoplasms; Paraplegia; Ureteral Obstruction
PubMed: 38909227
DOI: 10.1186/s12917-024-04114-8 -
Scientific Reports Jun 2024Hereditary spastic paraplegias are a diverse group of degenerative disorders that are clinically categorized as isolated; with involvement of lower limb spasticity, or...
Hereditary spastic paraplegias are a diverse group of degenerative disorders that are clinically categorized as isolated; with involvement of lower limb spasticity, or symptomatic, where spastic paraplegia is complicated by further neurological features. We sought to identify the underlying genetic causes of these disorders in the participating patients. Three consanguineous families with multiple affected members were identified by visiting special schools in the Punjab Province. DNA was extracted from blood samples of the participants. Exome sequencing was performed for selected patients from the three families, and the data were filtered to identify rare homozygous variants. ExomeDepth was used for the delineation of the copy number variants. All patients had varying degrees of intellectual disabilities, poor speech development, spasticity, a wide-based gait or an inability to walk and hypertonia. In family RDHR07, a homozygous deletion involving multiple exons and introns of SPG11 (NC000015.9:g.44894055_449028del) was found and correlated with the phenotype of the patients who had spasticity and other complex movement disorders, but not those who exhibited ataxic or indeterminate symptoms as well. In families ANMD03 and RDFA06, a nonsense variant, c.985C > T;(p.Arg329Ter) in DDHD2 and a frameshift insertion‒deletion variant of AP4B1, c.965-967delACTinsC;p.(Tyr322SerfsTer14), were identified which were homozygous in the patients while the obligate carriers in the respective pedigrees were heterozygous. All variants were ultra-rare with none, or very few carriers identified in the public databases. The three loss of function variants are likely to cause nonsense-mediated decay of the respective transcripts. Our research adds to the genetic variability associated with the SPG11 and AP4B1 variants and emphasizes the genetic heterogeneity of hereditary spastic paraplegia.
Topics: Humans; Male; Female; DNA Copy Number Variations; Pedigree; Spastic Paraplegia, Hereditary; Exons; Child; Adolescent; Adult; Exome Sequencing; Child, Preschool; Adaptor Protein Complex 4; Consanguinity; Homozygote; Phenotype; Young Adult; Proteins
PubMed: 38906889
DOI: 10.1038/s41598-024-64922-8 -
Journal of Vascular Surgery Jun 2024This study reports the 30-day outcomes of the primary arm of the GORE EXCLUDER Thoracoabdominal Branch Endoprosthesis (TAMBE) pivotal trial for complex abdominal aortic...
BACKGROUND
This study reports the 30-day outcomes of the primary arm of the GORE EXCLUDER Thoracoabdominal Branch Endoprosthesis (TAMBE) pivotal trial for complex abdominal aortic aneurysm repair.
METHODS
This multicenter, nonrandomized, prospective study of the TAMBE device included patients enrolled in the primary study arm of extent IV thoracoabdominal aortic aneurysms and pararenal aneurysms. Technical success and major adverse events were analyzed per the Society for Vascular Surgery guidelines.
RESULTS
The 102 patients of the primary arm who underwent endovascular repair using the TAMBE device were a mean age of 73 ± 6.4 years (range, 58-82 years) and 84 (84.2%) were male. The mean body mass index was 28.3 ± 5.0 kg/m. Fifty-nine patients (57.8%) were treated for extent IV and 43 (42.2%) pararenal aneurysms; the mean maximum diameter of the aneurysms was 59.4 ± 7.8 mm. A prophylactic cerebral spinal fluid drain was used in 10 patients (9.8%). Technical success was achieved in 99% of patients, with the single failure owing to unsuccessful cannulation of the left renal artery. Mean procedure time was 315 ± 103 minutes (range, 163-944 minutes), estimated blood loss was 300 ± 296 mL (range, 10-2000 mL), and contrast administration was 153.6 ± 73.5 mL (range, 16-420 mL). The intensive care unit length of stay was 58.7 ± 52.7 hours (range, 1-288 mL). In 28 patients (27.5%), a total of 32 additional endovascular components were deployed to manage procedural complications including aortic and target vessel dissections and injuries not related to access. Bridging stent grafts were deployed to incorporate 407 target vessels (mean 1.6/per vessel; range, 1-4). Postoperative transfusion was required in 14 patients (13.7%). Major adverse events occurred in seven patients (6.9%) through 30 days. Events included respiratory failure (n = 2), disabling stroke (n = 1), new-onset renal failure requiring dialysis (n = 2), and paraplegia (n = 2). At 30 days, there was one patient with intraoperative rupture; no severe bowel ischemia or lesion-related/all-cause mortality were reported. The Core lab-reported patency was 100% in the aortic component, superior mesenteric artery, and celiac artery, and 95.9% in the left renal and 99.0% in the right renal branch components through 30 days of follow-up. Reinterventions through 30 days were performed in 9 of 96 patients (9.4%) and were all minor.
CONCLUSIONS
Early TAMBE device outcomes demonstrate a high technical success rate, no 30-day lesion-related mortality, and a low rate of safety events within 30 days of the index procedure.
PubMed: 38904579
DOI: 10.1016/j.jvs.2024.05.020 -
World Journal of Clinical Cases Jun 2024For patients with acute paraplegia caused by spinal giant cell tumor (GCT) who require emergency decompressive surgery, there is still a lack of relevant reports on...
BACKGROUND
For patients with acute paraplegia caused by spinal giant cell tumor (GCT) who require emergency decompressive surgery, there is still a lack of relevant reports on surgical options. This study is the first to present the case of an acute paraplegic patient with a thoracic spinal GCT who underwent an emergency total spondylectomy (TES). Despite tumor recurrence, three-level TES was repeated after denosumab therapy.
CASE SUMMARY
A 27-year-old female patient who underwent single-level TES in an emergency presented with sudden severe back pain and acute paraplegia due to a thoracic spinal tumor. After emergency TES, the patient's spinal cord function recovered, and permanent paralysis was avoided. The postoperative histopathological examination revealed that the excised neoplasm was a rare GCT. Unfortunately, the tumor recurred 9 months after the first surgery. After 12 months of denosumab therapy, the tumor size was reduced, and tumor calcification. To prevent recurrent tumor progression and provide a possible cure, a three-level TES was performed again. The patient returned to an active lifestyle 1 month after the second surgery, and no recurrence of GCT was found at the last follow-up.
CONCLUSION
This patient with acute paraplegia underwent TES twice, including once in an emergency, and achieved good therapeutic results. TES in emergency surgery is feasible and safe when conditions permit; however, it may increase the risk of tumor recurrence.
PubMed: 38899300
DOI: 10.12998/wjcc.v12.i16.2894 -
Cureus May 2024Spastic paraplegia and psychomotor retardation with or without seizures (SPPRS) is a rare neurodevelopmental disorder associated with autosomal recessive mutations in...
Spastic paraplegia and psychomotor retardation with or without seizures (SPPRS) is a rare neurodevelopmental disorder associated with autosomal recessive mutations in the HACE1 gene. This case report presents the clinical features and genetic analysis of an 11-month-old girl and her sister with SPPRS, making it the third reported case in the Middle East and the second in Saudi Arabia. The patient exhibited hypotonia, global developmental delay, speech delay, swallowing difficulties, and recurrent respiratory infections. A homozygous pathogenic variant in the HACE1 gene (p.R664*) was identified through genetic analysis, confirming the diagnosis of SPPRS. This case report emphasizes the importance of considering variations in clinical presentation, especially in rare disorders where only a few cases are reported. Further research and case studies are needed to better understand the complete phenotypic spectrum of SPPRS and its complications.
PubMed: 38899231
DOI: 10.7759/cureus.60642 -
Journal of Clinical Medicine May 2024Upper body pain, particularly in the limbs and shoulders, is a common symptom among patients with spinal cord injury (SCI) and wheelchair users. Despite the focus on... (Review)
Review
Upper body pain, particularly in the limbs and shoulders, is a common symptom among patients with spinal cord injury (SCI) and wheelchair users. Despite the focus on resistance muscle training as a suitable intervention for SCI individuals, findings across different populations and conditions have been inconsistent. We conducted a systematic review to elucidate the correlations among exercise interventions, muscle strength enhancement, and pain reduction. A comprehensive literature search was performed using the keywords "spinal cord injury," "pain," "exercise," "disability," "paraplegia," and "tetraplegia" across the DBpia, EMBASE, PubMed, and Science Direct databases. From 191 identified articles, 13 studies (1 from Korea and 12 from other countries) were selected for analysis. The results indicate that exercise interventions are effective in reducing pain in patients with SCI, with a particular emphasis on alleviating shoulder pain. Exercise is essential for pain reduction in patients with SCI, especially those experiencing shoulder pain. However, there is a notable lack of experimental research focusing primarily on pain. The development of appropriate measurement instruments is crucial for the prevention and relief of pain in this patient population.
PubMed: 38892777
DOI: 10.3390/jcm13113066 -
Journal of Cardiothoracic Surgery Jun 2024The surgical treatment strategy for aortic arch pathology with a shaggy aorta must be determined on a case-by-case basis because of the risk of catastrophic...
BACKGROUND
The surgical treatment strategy for aortic arch pathology with a shaggy aorta must be determined on a case-by-case basis because of the risk of catastrophic complications, such as brain infarction and spinal cord injury.
CASE PRESENTATION
This report describes the surgical case of two saccular aneurysms of the arch and abdominal aorta associated with a shaggy aorta in a 63-year-old man who underwent total arch replacement and secondary thoracic endovascular aortic repair. Considering the risk of embolization during endovascular therapy, graft replacement for the abdominal aortic aneurysm was initially performed. On postoperative day 28, total arch replacement with the conventional elephant trunk was performed using the functional brain isolation technique, which involves manipulating places far from the atherosclerotic burden, such as arterial inflow for cardiopulmonary bypass and unclamping of neck vessels. On postoperative day 7 after total arch replacement, thoracic endovascular aortic repair was performed across the conventional elephant trunk in the nondiseased descending aorta. No postoperative complications, such as cerebrovascular failure, paraplegia, or embolization to abdominal viscera or lower extremities, occurred. The patient remained asymptomatic.
CONCLUSIONS
The present case suggests that total arch replacement with the conventional elephant trunk and secondary thoracic endovascular aortic repair may be an effective alternative for aortic arch pathology with a shaggy aorta. The strategy for surgical treatment in patients with aortic arch pathologies with a shaggy aorta must be judged on a case-by-case basis, considering patient characteristics, comorbidities, and preoperative evaluation using transesophageal echocardiography and computed tomography angiography, to eliminate potential determinants of intraoperative stroke.
Topics: Humans; Male; Middle Aged; Aorta, Thoracic; Aortic Aneurysm, Thoracic; Endovascular Procedures; Blood Vessel Prosthesis Implantation; Tomography, X-Ray Computed
PubMed: 38890739
DOI: 10.1186/s13019-024-02841-5