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

Cervical osseous changes associated with vertebral artery tortuosity

WOS: 000075513000009PubMed ID: 9763789Vertebral artery tortuosity causing neural foraminal widening is a well described abnormality that should not be confused with other causes of neural foraminal enlargement, particularly on conventional roentgenograms. We, hereby, describe CT features of another cervical osseous change due to the vertebral artery tortuosity, the so called "tubular shaped vertebral artery canal", which is embedded in the vertebral body instead of causing neural foramen enlargement. Catheter and MR angiographic studies have also been performed to confirm the vertebral artery tortuosity causing the osseous changes

Cervical osseous changes associated with vertebral artery tortuosity

WOS: 000075513000009PubMed ID: 9763789Vertebral artery tortuosity causing neural foraminal widening is a well described abnormality that should not be confused with other causes of neural foraminal enlargement, particularly on conventional roentgenograms. We, hereby, describe CT features of another cervical osseous change due to the vertebral artery tortuosity, the so called "tubular shaped vertebral artery canal", which is embedded in the vertebral body instead of causing neural foramen enlargement. Catheter and MR angiographic studies have also been performed to confirm the vertebral artery tortuosity causing the osseous changes

Comparison of Magnetic Coil and Needle Electrical-Stimulation In Diagnosis of Lumbosacral Radiculopathy

WOS: A1994NN05500020PubMed ID: 819671

Comparison of Magnetic Coil Stimulation and Needle Electrical-Stimulation In the Diagnosis of Lumbosacral Radiculopathy

WOS: A1994NQ63700004PubMed ID: 7924074Electrical stimulation (ES) of lumbosacral nerve roots using a needle electrode inserted to the laminar level at the midline of Th12-L1 or L1-2 intervertebral interspace, was compared with magnetic stimulation using a 9-cm diameter coil (MCS) at the L3-4 or L4-5 spine levels, Compound muscle action potentials (CMAP) were superficially recorded from homologous muscles in both sides in 15 normal control subjects and in 20 patients with lumbosacral radiculopathy. Soleus muscles were used for S1, tibialis anterior (TA) for L5, and rectus femoris (RF) muscles for L4 roots. According to the clinical or radiological diagnosis (CAT, MRI and/or myelography) conventional needle EMG was capable to localise the root lesion in 16 of 20 patients (80%) and ES localised the root involvement in 18 of 20 patients (90%); the diagnostic value of MCS was lower, about 65% (13 of 20 patients). Although ES is uncomfortable and invasive, it is superior to needle EMG in localising unilateral or multiple lumbosacral root involvement. At present, MCS is not suitable for the diagnosis of lumbar radiculopathy

CADASIL with Atypical Clinical Symptoms, Magnetic Resonance Imaging, and Novel Mutations: Two Case Reports and a Review of the Literature

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary microangiopathy with adult onset caused by a missense mutation in the NOTCH3 gene in chromosome 19p13. It presents with autosomal dominant arteriopathy, subcortical infarctions, and leukoencephalopathy. Its common clinical presentations are seen as recurrent strokes, migraine or migraine-like headaches, progressive dementia, pseudobulbar paralysis, and psychiatric conditions. Two patients with CADASIL syndrome, whose diagnosis was made based on clinical course, age of onset, imaging findings, and genetic assays in the patients and family members, are presented here because of new familial polymorphisms. The first patient, with cerebellar and psychotic findings, had widespread non-confluent hyperintense lesions as well as moderate cerebellar atrophy in cranial magnetic resonance scanning. The other patient, with headache, dizziness, and forgetfulness, had gliotic lesions in both cerebral hemispheres. CADASIL gene studies revealed a new polymorphism in exon 33 in the first patient. In the other patient, the NOTCH3 gene was identified as a new variant of p.H243P (c.728A > C heterozygous). By reporting a family presenting with various clinical symptoms in the presence of new polymorphisms, we emphasize that CADASIL syndrome may present with various clinical courses and should be considered in differential diagnoses. © 2019, Springer Science+Business Media, LLC, part of Springer Nature