Spontaneous spinal epidural hematomas (SSEH) is a rare entity with an estimated incidence of 0.1 in 100,000, defined as a an epidural hematoma without any known inciting events such as trauma or an iatrogenic procedure. Currently, there are no local data pertaining to this disease entity. This paper presents a case of a 52 year old male, without any known comorbid coagulopathies or vasculopathies, and no preceding history of trauma or surgical procedures with sudden onset right-sided radicular pain and hemiparesis with left-sided hemianesthesia with spinal MRI findings of a spinal epidural hematoma but no vascular malformations seen on spinal angiogram. He was managed non-surgically, given short-course steroids, and sent home after 7 days in the hospital. There was no noted progression of his baseline deficits nor any recurrence of another acute spinal event. Upon follow up after 6 months, there was noted resolution of weakness and with only residual mild and patchy sensory deficit on the left. Traditionally treated surgically, this case reports highlights the role of conservative management in this rare condition with good functional outcome.

Human ; Male ; Middle Aged: 45-64 Yrs Old ; Surgical Procedures, Operative ; Hematoma, Epidural, Spinal ; Vascular Malformations ; Paresis ; Angiography ; Hematoma

Introduction: Spinal cord schistosomiasis can masquerade as an intramedullary tumor when it involves the conus medullaris or lower thoracic cord. Eggs transported via the valveless vertebral (Batson) venous plexus provoke a granulomatous inflammatory response, producing mass-like lesions on MRI. Because clinical presentation overlaps with neoplastic or inflammatory spinal diseases, the diagnosis often requires histopathologic confirmation. Case Description: A 26-year-old male experienced sudden severe back pain initially thought to be due to a manifestation of symptoms from a bad fall from when the patient was just 5 years old. The patient was assessed through MRI with contrast yielding a 1 x 1.6 x 4.1 cm mass at the distal lumbar area involving the conus medullaris. Histopathological examination revealed the spinal tumor to be schistosomiasis with chronic inflammation. Discussion: Spinal neuroschistosomiasis, overall, is rare with a 1-4% incidence among people with systemic schistosomiasis. Even among medullary schistosomiasis, 0.7% were lumbosacral and not necessarily involving the conus medullaris. Spinal cord schistosomiasis is most commonly due to Schistosoma mansoni or haematobium and can masquerade as an intramedullary tumor but epidemiological and microscopic data point toward Schistosoma japonicum to be the more likely causative agent for this case. The clinical presentation of spinal neuroschistosomiasis of the conus medullaris is non-specific and may overlap with more common spinal pathologies presenting as a subacute myelopathy, clinically. Conclusion The case highlights the necessity of heightened suspicion for spinal tumors among patients from schistosoma-endemic areas, advocating early diagnosis and management.
Schistosomiasis ; Spinal Cord Diseases

OBJECTIVE: To assess the carrier frequency of spinal muscular atrophy (SMA) in women of childbearing age in Chongqing and to evaluate prenatal diagnostic outcomes in high-risk couples. METHODS: A total of 17 926 women of childbearing age attending Chongqing Health Center for Women and Children between May 2021 and November 2023 were enrolled, including 3 398 pre-pregnant women and 14 528 pregnant women, all of whom had no clinical phenotype or family history of SMA or related neuromuscular disorders. Real-time quantitative PCR (RT-qPCR) was used to determine the copy number variations in exons 7 and 8 (E7, E8) of the SMN1 gene. High-risk carriers were identified based on the genetic screening results. Multiplex ligation-dependent probe amplification (MLPA) was employed for prenatal diagnosis of fetuses from high-risk couples. This study was approved by the Medical Ethics Committee of Chongqing Health Center for Women and Children (Ethics No.2021-RGI-02). RESULTS: Among the 17 926 women of childbearing age, 298 (1.66%) were identified as heterozygous carriers, including 278 (1.55%) with concurrent deletions of E7 and E8, and 20 (0.11%) with isolated deletions of E7. Seven high-risk couples were identified, six of whom were prenatal couples. Of the two fetuses from these high-risk pregnancies, both exhibited heterozygous deletions of E7 and E8 in the SMN1 gene, while four fetuses showed no abnormalities. CONCLUSION This study provides a comprehensive assessment of the carrier frequency of SMA among women of childbearing age in Chongqing, offering valuable data for the primary and secondary prevention of SMA-related birth defects in the region.
Humans ; Female ; Muscular Atrophy, Spinal/diagnosis* ; Pregnancy ; Prenatal Diagnosis/methods* ; Adult ; Survival of Motor Neuron 1 Protein/genetics* ; Genetic Carrier Screening/methods* ; DNA Copy Number Variations/genetics* ; China ; Genetic Testing ; Heterozygote

OBJECTIVE: To explore the clinical features and genetic basis of a male patient with Kennedy disease(KD) presenting as secondary infertility. METHODS: A male patient who had presented at Yantai Yuhuangding Hospital in August 2023 for secondary infertility for 5 years was selected as the study subject. Clinical data, laboratory findings, and auxiliary examination of the patient were collected. Peripheral blood samples were obtained from the patient and his family members. Following DNA extraction, whole-exome sequencing (WES) was carried out. Pathogenicity of candidate variant was predicted by bioinformatics analysis. Fluorescence probe PCR-capillary electrophoresis was employed to analyze the trinucleotide CAG repeat sequence variation in the AR gene to rule out dynamic mutation. This study was approved by the Ethics Committee of Yantai Yuhuangding Hospital (Ethics No.: 2024-697). RESULTS: The patient had presented with non-obstructive azoospermia and elevated androgen sensitivity index. Ultrasound scan indicated small testicular volume and seminal vesicle atrophy. WES and bioinformatics analysis revealed abnormal amplification in the patient's AR gene. Fluorescence probe PCR and capillary electrophoresis confirmed that both the proband and his nephew had harbored 52 CAG trinucleotide repeats in exon 1 of the AR gene, confirming the diagnosis of KD. The proband's mother, elder sister, and daughter were identified as carriers of the variant, while his second elder sister did not carry the mutation. CONCLUSION As a rare X-linked recessive genetic disease, KD mainly manifests with muscle weakness, myasthenia gravis and myofascial tremor, while cases with infertility and non-obstructive azoospermia as the initial symptoms are rare and can be easily missed. Diagnosis made by genetic testing needs to be taken seriously by the clinicians.
Humans ; Male ; Bulbo-Spinal Atrophy, X-Linked/diagnosis* ; Adult ; Infertility, Male/genetics* ; Receptors, Androgen/genetics* ; Exome Sequencing ; Mutation ; Pedigree ; Trinucleotide Repeats

OBJECTIVES

To present a rare case of a 17-year-old girl with multiple odontogenic keratocysts, skeletal abnormalities, central nervous system and cutaneous anomalies.

METHODS

Design:Case Report

Setting:Tertiary Government Training Hospital

Patient: One

RESULTS

A 17-year-old Filipino girl presented with a one-year history of progressive left mandibular swelling. Orthopantomography revealed multiple cysts involving the mandible and maxillae. Histopathologic examination of incision biopsy specimens confirmed odontogenic keratocysts. Other physical examination findings included coarse face and multiple palmar and plantar pits. Radiologic investigations demonstrated calcification of the falx cerebri and tentorium cerebelli, bifid rib and cervicothoracic scoliosis. Based on clinical, radiological, and histopathological findings, a diagnosis of Gorlin-Goltz syndrome was established. The patient underwent enucleation and curettage of the cysts with peripheral ostectomy, and there was no recurrence on repeat orthopantomography at six months and two years post-operatively. However, on the fourth year, the patient claimed there was a mandibular cyst which was not verified as she was lost to follow-up.

CONCLUSION

This case highlights the importance of recognizing multiple odontogenic keratocysts as a potential manifestation of Gorlin-Goltz Syndrome. Early diagnosis enables appropriate management and long term surveillance to monitor for other manifestations of this syndrome that may occur later in life.

Human ; Female ; Adolescent: 13-18 Yrs Old ; Basal Cell Nevus Syndrome ; Mandible ; Radiography, Panoramic ; Focal Dermal Hypoplasia ; Ribs ; Scoliosis ; Spinal Cord ; Women ; History ; Lost To Follow-up ; Diagnosis

Objective To further clarify the anatomical features of the long occipital nerve and summarize the rapid anatomical method for it,thus providing an operational basis for anatomists.Methods The bilateral sides of the head and neck specimens of 38 adult formalin-fixed cadavers were dissected,with a total of 76 specimens.The lateral cervical region,the sternocleidomastoid region,and the occipital region were dissected.The dissection focused on the long occipital nerve,the location and adjacent structural characteristics of which were carefully observed.Results The long occipital nerve was dissected out from 76 specimens.Through the posterior margin line(PML)anatomical method,the long occipital nerve was identified 1-3 cm above the accessory nerve,near the posterior border of the deep surface of the upper sternocleidomastoid in 70(92.1%)specimens.Through the inflection point(IP)anatomical method,the long occipital nerve was observed within the range of the circle with a radius of about 1.5 cm and centered on the midpoint of the line between the tip of the mastoid process and the tip of the external occipital protuberance in 6(7.9%)specimens.Conclusions The long occipital nerve can be quickly found by the PML method or IP method.Although the long occipital nerve can definitely be identified by the IP method,the anatomical operation is difficult.
Humans ; Cadaver ; Spinal Nerves/anatomy & histology* ; Neck/innervation* ; Adult

Objective To explore the functional mechanism of spinal cord fragile X mental retardation protein(FMRP)involved in neuropathic pain(NP)by using the sciatic nerve model of chronic compression injury(CCI).Methods First,to investigate the changes of spinal cord FMRP and β-catenin following the development of NP,this study compared the 50%mechanical withdrawal threshold(MWT)and thermal withdrawal latency(TWL)in CCI rats,as well as changes of FMRP and β-catenin in the spinal dorsal horn post-surgery,through random grouping.Immunofluorescence staining was performed on spinal cord tissue sections from CCI rats.Second,to further validate the alterations in pain behavior when the FMRP function was lost,we measured the 50%MWT,TWL,and FMRP and β-catenin in the spinal dorsal horn after FMRP knockdown in CCI rats.Finally,we measured the 50%MWT,TWL,and FMRP and β-catenin in the case of FMRP hyperfunction for validation.Results Compared with the baseline CCI group and the naive and sham groups after modeling,the CCI group after modeling showed decreases in 50%MWT and TWL(all P<0.001).After modeling,compared with the naive group and the sham group,the CCI group presented up-regulated expression of FMRP(P=0.027,P=0.022)and β-catenin(P<0.001,P=0.001)in the spinal dorsal horn.No co-localization of FMRP with astrocytes and microglia was observed in the spinal cord,while the co-localization with neurons was observed.Compared with the baseline,the CCI+FMRP knockdown group showed decreases in 50%MWT(P=0.015)and TWL(P=0.001)after modeling.After intrathecal injection of small interfering RNA(siRNA),the 50%MWT(P=0.020)and TWL(P=0.009)of the CCI+FMRP knockdown group were increased.Moreover,compared with the CCI group and the CCI+solvent group,the CCI+FMRP knockdown group showed increases in 50%MWT(both P<0.001)and TWL(P=0.005,P=0.006).After intrathecal injection of siRNA,the expression levels of FMRP(P=0.012,P=0.007)and β-catenin(both P<0.001)in the spinal dorsal horn of the CCI+FMRP knockdown group were lower than those of the CCI group and the CCI+solvent group.Compared with the baseline FMRP overexpression group and the naive and negative control groups after adeno-associated virus(AAV)injection,the FMRP overexpression group after AAV injection showed decreases in 50%MWT and TWL(all P<0.001).After AAV injection,compared with the naive group and the negative control group,the FMRP overexpression group demonstrated up-regulated expression of FMRP(both P<0.001)and β-catenin(P=0.006,P=0.008)in the spinal cord.Conclusions This study confirms that spinal cord FMRP and β-catenin are involved in NP induced by CCI.Spinal cord FMRP may be one of the potential therapeutic targets for NP.
Animals ; beta Catenin/metabolism* ; Neuralgia/metabolism* ; Fragile X Mental Retardation Protein/physiology* ; Spinal Cord/metabolism* ; Rats ; Rats, Sprague-Dawley ; Male

INTRODUCTION: Postoperative urinary retention (POUR) frequently complicates the course of patients following hip and knee arthroplasty. Intrathecal morphine (ITM) was identified as a significant risk factor for POUR. The objective of this study was to investigate the incidence and risk factors for POUR in fast-track total joint arthroplasty (TJA) under spinal anaesthesia (SA) with ITM. METHODS: We conducted a retrospective study of our institutional joint registry of patients who underwent primary TJA under SA with ITM between October 2017 and May 2021. Preoperative (baseline demographics) and perioperative data were collected. The primary outcome was the incidence of POUR after 8 h or earlier, either due to lack of voiding or according to patient's complaints of bladder distension. Univariate and adjusted analyses were performed to identify predictors of POUR. RESULTS: Sixty-nine patients who underwent total knee arthroplasty (TKA) and 36 patients who underwent total hip arthroplasty (THA) under SA with ITM were included in the study. POUR requiring bladder catheterisation was diagnosed in 21% of patients. Independent predictors of POUR were age over 65 years and male gender. CONCLUSIONS SA with ITM for TJA is associated with high rates of POUR in males older than 65 years of age. Other previously identified risk factors such as intraoperative fluid administration or comorbidities may not be as influential.
Humans ; Retrospective Studies ; Male ; Urinary Retention/epidemiology* ; Arthroplasty, Replacement, Knee/adverse effects* ; Anesthesia, Spinal/adverse effects* ; Female ; Arthroplasty, Replacement, Hip/adverse effects* ; Morphine/adverse effects* ; Aged ; Middle Aged ; Risk Factors ; Postoperative Complications/epidemiology* ; Injections, Spinal ; Incidence ; Analgesics, Opioid/adverse effects* ; Aged, 80 and over

INTRODUCTION: The most recent local study on the incidence of histological subtypes of all brain and spinal tumours treated surgically was published in 2000. In view of the outdated data, we investigated the presenting characteristics, histological subtypes and outcomes of adult patients who underwent surgery for brain or spinal tumours at our institution. METHODS: A single-centre retrospective review of 501 patients who underwent surgery for brain or spinal tumours from 2016 to 2020 was conducted. The inclusion criteria were (a) patients who had a brain or spinal tumour that was histologically verified and (b) patients who were aged 18 years and above at the time of surgery. RESULTS: Four hundred and thirty-five patients (86.8%) had brain tumours and 66 patients (13.2%) had spinal tumours. Patients with brain tumours frequently presented with cranial nerve palsy, headache and weakness, while patients with spinal tumours frequently presented with weakness, numbness and back pain. Overall, the most common histological types of brain and spinal tumours were metastases, meningiomas and tumours of the sellar region. The most common complications after surgery were cerebrospinal fluid leak, diabetes insipidus and urinary tract infection. In addition, 15.2% of the brain tumours and 13.6% of the spinal tumours recurred, while 25.7% of patients with brain tumours and 18.2% of patients with spinal tumours died. High-grade gliomas and metastases had the poorest survival and highest recurrence rates. CONCLUSION This study serves as a comprehensive update of the epidemiology of brain and spinal tumours and could help guide further studies on brain and spinal tumours.
Humans ; Retrospective Studies ; Female ; Male ; Middle Aged ; Adult ; Aged ; Central Nervous System Neoplasms/pathology* ; Brain Neoplasms/pathology* ; Treatment Outcome ; Postoperative Complications ; Young Adult ; Spinal Neoplasms/pathology* ; Neoplasm Recurrence, Local ; Aged, 80 and over ; Adolescent

OBJECTIVE: To observe the effects of moxibustion at "Shenque" (CV8) on urodynamics and the expression of brain-derived neurotrophic factor (BDNF) and immediate early gene (c-fos) in pontine micturition center (PMC), periaqueductal gray (PAG), medial prefrontal cortex (mPFC) of neurogenic bladder (NB) rats after spinal cord injury. METHODS: Twenty-four SPF female SD rats were randomly divided into a sham-operation group (6 rats) and a modeling group (18 rats). In the modeling group, T₉ complete spinal cord transection method was used to establish a neurogenic detrusor overactivity model, and the 12 rats with successful modeling were randomized into a model group and a moxibustion group, with 6 rats in each group. The rats in the moxibustion group were treated with ginger/salt-insulated moxibustion at "Shenque" (CV8), and 4 consecutive moxa cones were delivered in one intervention. Moxibustion was operated once daily and for 14 days. After intervention completion, the urodynamic indexes of rats in each group were detected. Fluorescence quantitative PCR was used to detect the mRNA expression of BDNF and c-fos in PMC, PAG and mPFC in rats. Western blot was used to detect the protein expression of BDNF and c-fos in PMC, PAG and mPFC. RESULTS: The rats in the sham-operation group did not show phasic detrusor contraction during bladder filling. Compared with the model group, the frequency and amplitude of the phasic detrusor contraction were reduced 5 min before urine leakage in the rats of the moxibustion group (P<0.05), and the duration of the first phasic detrusor contraction during bladder filling was prolonged (P<0.05). Compared with the sham-operation group, the mRNA and protein expression of BDNF and c-fos in PMC, PAG and mPFC increased in the model group (P<0.05). Compared with the model group, the mRNA and protein expression of BDNF and c-fos in PMC, PAG and mPFC decreased in the moxibustion group (P<0.05). CONCLUSION Moxibustion at "Shenque" (CV8) can improve the phasic contraction during bladder filling in NB rats after spinal cord injury, possibly by down-regulating the mRNA and protein expression of BDNF and c-fos in PMC, PAG, and mPFC.
Animals ; Moxibustion ; Female ; Rats ; Brain-Derived Neurotrophic Factor/metabolism* ; Rats, Sprague-Dawley ; Acupuncture Points ; Spinal Cord Injuries/metabolism* ; Urinary Bladder, Neurogenic/etiology* ; Proto-Oncogene Proteins c-fos/metabolism* ; Humans ; Urinary Bladder/physiopathology* ; Brain/metabolism* ; Urination