Association of myasthenia gravis and Behçet's disease: A case report

Myasthenia gravis is a disease of neuromuscular junction due to auto-immune destruction of the acetylcholine receptors. Behçet's disease, on the other hand, is a multisystemic vascular-inflammatory disease. Both conditions are not common in the general population although their association has not been reported in the literature. We wanted to present our patient who developed clinical course of myasthenia gravis following discontinuation of medications due to complications of corticosteroid for Behçet's disease. It was observed that clinical findings of myasthenia gravis recovered following restarting steroid treatment and he did not experience attacks of both conditions. Although Myasthenia gravis and Behçet's disease are distinct entities clinically as well as in terms of pathogenesis, they share common physiopathological features and their treatment is based on their common features

Ovarian reserve assessment in crohn patients of reproductive age

Objectives: Crohn’s disease (CD) is a repeating bowel disease characterized by remission and exacerbation periods. The disease mostly affects adults of reproductive age. Women with desires to conceive are concerned about the effects of CD on their fertility. To demonstrate the relationship between ovarian reserve and CD anti-Müllerian hormone (AMH) levels, antral follicle count (AFC) and ovarian volüme were evaluated.Material and methods: The prospective case-controlled study was conducted at a tertiary referral center in Istanbul between March–August 2019. Ovarian functions were evaluated in 50 patients with CD and in 95 healthy women. Serum gonadotropin and AMH levels were determined. AFCs and ovarian volumes were calculated for all subjects.Results: AMH levels were significantly lower in CD patients (2.1 ± 0.8) compared to the control group (3.3 ± 0.9) (p = 0.001). Serum AMH levels were significantly lower in patients with active CD (2.1 ± 0.6) than the CD patients in remission (2.6 ± 0.8) (p = 0.002). Ovarian volumes and AFC values were significantly lower in both ovaries in CD patients compared to the controls (p < 0.05).Conclusions: AMH levels, ovarian volume and AFC counts, and thus ovarian reserve was shown to be decreased in CD patients of reproductive age compared to healthy control subjects. Because possible effects of inflammatory damage may be seen in newly diagnosed female CD patients who desire to have a child, we believe that CD patients should be comprehensively assessed for ovarian reserve

The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions

Endometriosis is a common condition associated with debilitating pelvic pain and infertility. A genome-wide association study meta-analysis, including 60,674 cases and 701,926 controls of European and East Asian descent, identified 42 genome-wide significant loci comprising 49 distinct association signals. Effect sizes were largest for stage 3/4 disease, driven by ovarian endometriosis. Identified signals explained up to 5.01% of disease variance and regulated expression or methylation of genes in endometrium and blood, many of which were associated with pain perception/maintenance (SRP14/BMF, GDAP1, MLLT10, BSN and NGF). We observed significant genetic correlations between endometriosis and 11 pain conditions, including migraine, back and multisite chronic pain (MCP), as well as inflammatory conditions, including asthma and osteoarthritis. Multitrait genetic analyses identified substantial sharing of variants associated with endometriosis and MCP/migraine. Targeted investigations of genetically regulated mechanisms shared between endometriosis and other pain conditions are needed to aid the development of new treatments and facilitate early symptomatic intervention

The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions

Endometriosis is a common condition associated with debilitating pelvic pain and infertility. A genome-wide association study meta-analysis, including 60,674 cases and 701,926 controls of European and East Asian descent, identified 42 genome-wide significant loci comprising 49 distinct association signals. Effect sizes were largest for stage 3/4 disease, driven by ovarian endometriosis. Identified signals explained up to 5.01% of disease variance and regulated expression or methylation of genes in endometrium and blood, many of which were associated with pain perception/maintenance (SRP14/BMF, GDAP1, MLLT10, BSN and NGF). We observed significant genetic correlations between endometriosis and 11 pain conditions, including migraine, back and multisite chronic pain (MCP), as well as inflammatory conditions, including asthma and osteoarthritis. Multitrait genetic analyses identified substantial sharing of variants associated with endometriosis and MCP/migraine. Targeted investigations of genetically regulated mechanisms shared between endometriosis and other pain conditions are needed to aid the development of new treatments and facilitate early symptomatic intervention

TURKISH NEUROSURGERY

AIM: The aim of this study was to describe the results of surgery performed in a group of adult patients with tethered cord syndrome with their outcomes. MATERIAL and METHODS: This retrospective study included 56 patients. There were 38 females and 18 males. All patients were older than 18 years. RESULTS: The mean age at referral was 36 years and 1 month. The mean follow-up period was 10 months 27 days. 95% of all patients with back and leg pains improved and 5% remained the same. Three patients with motor deficits remained the same in the postoperative period. Of the 16 patients with urological complaints, 10 improved, 5 unchanged and 1 patient died in the postoperative first day due to pulmonary embolism. CONCLUSION: The syndrome of tethered cord may be a situation to be treated even in the elderly in case of normal level conus medullaris and filum terminale with a normal appearance as well as a low-lying conus and thick filum. To prevent overlooking the diagnosis of tethered cord and/or unnecessary spinal surgeries, the tethered cord syndrome should be remembered in the differential diagnosis list in the presence of back and leg pains, neurological deficits or urological complaints

CHILDS NERVOUS SYSTEM

Objective The aim of this study is to demonstrate the process of detaching neural and surface ectodermal layers soon after the neurulation completes. Materials and methods Specific pathogen-free chicken egg embryos were used to investigate the neurulation procedure. Ten eggs were saved as controls. The other ten eggs were opened at the 30th hour of embryo development and cultured with Z-VAD-FMK (peptide caspase inhibitor) to investigate the results of the apoptosis inhibition. Embryos were placed and developed up to 48 h in the culture medium. To detect apoptotic cells between neural and surface dermal layers, immunoreactivity of p53 and terminal uridine deoxynucleotidyl transferase dUTP nick end labeling (TUNEL) assay were used. Results While the control group shows positive immunoreactivity of p53 and TUNEL-positive apoptotic cells at the site where the neural folds detach from the surface ectoderm, no TUNEL activity and no detachment were detected in the apoptosis-inhibited group. Conclusion As inhibition of apoptosis prevented the detachment of the neural and surface ectodermal layers from each other at the end of the neurulation, inhibition of apoptosis seemed to cause a considerable embryological error accounted for congenital dermal sinus tractus maldevelopment

CHILDS NERVOUS SYSTEM

The paralysis associated with lumbosacral meningomyelocele has been attributed both to myelodysplasia and to degeneration of the exposed neural tissue. Surgically created dysraphism shows that exposure of an intact spinal cord in a genetically normal animal results in degeneration of the normal nervous tissue and subsequent paralysis. Our objective was to study neuronal differentiation in the curly tail mouse mutant model, which develops lumbosacral meningomyelocele naturally and is a phenocopy of nonsyndromic human neural tube defects. Prenatal repair of meningomyelocele assumes that the normal neuronal differentiation program occurs despite failure of neurulation. Here we demonstrate that this most suitable animal model has normal differentiation of neuronal structures at the level of the meningomyelocele. TuJ1, an antibody to neuronal specific class III beta -tubulin, an early marker of neuronal differentiation, was used to stain paraffin-embedded sections of curly tail mouse embryo meningomyelocele. Embryos were examined at embryonic day 13.5 (E13.5). The inbred mouse strain, C57BL6/J, which is genetically similar to the curly tail mouse, was used as a control in these studies. We show that early neuronal differentiation appears intact within the meningomyelocele. TuJ1 stains structures within the open neural tube. Motor neurons are present in the ventral horn and ventral roots. Dorsal root ganglia are present and of similar size to controls. The staining pattern is similar to that seen in the C57BL/6J control mouse, although dorsal structures are laterally displaced in the curly tail meningomyelocele. Based on this model, fetal surgery to repair human meningomyelocele may preserve neurological function in those cases where there is not an inherent genetic defect of the neural tissue

CHILDS NERVOUS SYSTEM

Introduction: Tethered spinal cord is defined as a condition in which the conus medullaris ends at a level-below the L1-2 intervertebral space. The spinal cord is considered to be tethered when there is a thick filum terminale or low-lying conus medullaris. It has also been reported that a normal level of the conus medullaris and normal thickness of the filum terminale do not mean that there is no cord tethering. Materials and methods: In this investigation, we examined 21 fila terminalia; 5 of them were taken from cadavers, and these were used as a control group (group 1; n/n), 8 from patients with a normal appearance of the filum terminale but with clinical symptoms (incontinence) and pathologic results of a urodynamic study (group 2; n/ab), and 8 from patients with an abnormal appearance of the filum terminale and with clinical symptoms (group 3; ab/ab). Interestingly, we found that while fila terminalia in the control group were made up mainly of collagen fibers, more connective tissue with dense collagen fibers, some hyalinization and dilated capillaries were noticed in the fila from group 2. Results: Our results suggest that these histological features may reflect a decreased elasticity within the filum terminale, resulting in a tethering effect on the lower conus in otherwise normal physiological conditions. Conclusion: These findings lead us to reconsider sectioning of the filum terminale in incontinent patients with normal results in radiological studies, whose condition is called nonneurogenic neurogenic bladder

CHILDS NERVOUS SYSTEM

We retrospectively reviewed 77 patients with a tethered spinal cord syndrome to evaluate the results of neurosurgical treatment. The patients were divided into two groups: in group 1 there were 17 patients with primary tethered cord who had normal level conus medullaris (NLCM) and normal thickness filum terminale (NTFT) with urinary incontinence, and group was made up of 60 patients with secondary spinal cord tethering after a previous closure of a midline fusion defect who had a low-lying conus medullaris. Neurological examination, radiography, urodynamic tests and electrophysiological findings confirmed the diagnosis. Conventionally, tethered cord syndrome has been defined as a state in which the conus medullaris is located below the L1-2 disc space. However. in a patient with urinary incontinence and a hyper-reflexive type of neurogenic bladder, in whom the conus medullaris is found to be at the normal level, there may still be cord tethering that is causing the incontinence. In this study the comparison was based on evaluation of the response to treatment and general characteristics of the syndrome in both groups of patients to draw attention to the general approach to this incapacitating maldevelopment