Introduction
Myasthenia gravis (MG) is an autoimmune disease of the neuromuscular junction. Approximately 10%–15% of MG patients have juvenile (<18 years of age) onset. We aimed to assess the clinical course, outcome, and subjectively perceived health status of a cohort of juvenile MG patients.
Methods
This was a retrospective analysis of medical records of 101 patients followed by a cross‐sectional questionnaire study.
Results
The mean age of patients was 12.8 years at onset and 13.7 years at diagnosis. Ninety percent of the patients were seropositive. Over 40% of the patients were treated with immunosuppression and over 80% underwent thymectomy. The mean Myathenia Gravis Activities of Daily Living (MG‐ADL) scale score was 2.48. At last follow‐up, 30.9% of patients were in complete, stable remission; 77.8% perceived their health as good.
Discussion
The treatment outcome for juvenile MG is favorable, with a marked reduction of symptoms and good day‐to‐day activity achieved for most patients. Muscle Nerve 59:549–549, 2019
Introduction
Diverticulosis affects approximately 60% of population after 60th year of age. Diverticular disease is symptomatic diverticulosis characterized by abdominal pain, flatulence and bloating, and bowel habits change. Age and lifestyle are risk factors for diverticulosis, additionally genetic predisposition is postulated. The aim of the study was to assess whether tissue inhibitors of matrix metalloproteinase (TIMP) 1 rs4898 and TIMP2 rs8179090 genetic variants are related to colonic diverticulosis.
Methods
The study included 220 patients, 100 with colon diverticulosis diagnosed on colonoscopy and 120 controls. TIMP1 rs4898 and TIMP2 rs8179090 variants were examined using PCR–restriction fragments length polymorphism from a blood sample.
Results
Allele T of TIMP1 rs4898 was more frequent in male patients with diverticulosis than in controls (P < 0.01), whereas in women there were no differences in its distribution, both in heterozygotes and homozygotes or in homozygotes separately, proving a recessive effect. TIMP2 s8179090 allele G frequency was 0.95 in cases and controls, there were no CC homozygotes identified, and no associations with diverticulosis showed.
Conclusion
TIMP1 rs4898 allele T may be a genetic determinant of the risk of diverticulosis in men.
The gastrointestinal (GI) tract contains the highest concentration of biogenic amines in the
human body. Neurons located in the GI tract, modulated by biogenic amines and various peptide
and non-peptide transmitters, are called Enteric Nervous System (ENS). That explains why
many medications used in neurology and psychiatry present side effects from the gut. Serotonin
(5-hyroxytrypatamine, 5-HT), 95% of which is synthesized in the gut, is the most important amine
(beside epinephrine and norepinephrine) colon functionality but another substances such as
histamine, dopamine and melatonin are also potent in modulating intestine’s actions. Over 30
receptors for 5-HT were described in the human body, and 5-HT3, 5-HT4 and 5-HT7 are known
to have the highest influence on motility and are a potent target for the drugs for treatment
GI disorders, such as Irritable Bowel Syndrome (IBS) and Inflammatory Bowel Diseases (IBD).
Histamine is a key biogenic amine for pathogenesis of allergy also in the colon. Alteration in
histaminergic system is found in patients with diarrhea and allergic enteropathy. Dopamine
affects functions of the large intestine but its modulating actions are more presented in the
upper part of GI tract. Melatonin is best known for regulating circadian circle, but may also be
a potent anti-inflammatory agent within the gut. Despite many years of research, it seems that
more studies are needed to fully understand human colon neurochemistry.
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