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Postepy Psychiatrii Neurologii Mar 2024Carpal tunnel syndrome (CTS) is the most common entrapment neuropathy, with paresthesias and pain in the hand and wrist. CTS is also associated with insomnia and...
Validation of the Polish version of the Boston Carpal Tunnel Questionnaire, and the influence of treatment for disordered sleep and daytime sleepiness in carpal tunnel syndrome.
PURPOSE
Carpal tunnel syndrome (CTS) is the most common entrapment neuropathy, with paresthesias and pain in the hand and wrist. CTS is also associated with insomnia and excessive daytime sleepiness (EDS) resulting from the nocturnal exacerbation of symptoms. The Boston Carpal Tunnel Questionnaire (BCTQ) was developed for the assessment of therapeutic outcomes. It consists of two subscales: the Symptom Severity Scale (SSS) and the Functional Status Scale (FSS). The aim of this study was to perform an adaptation and validation of the Polish language version of BCTQ (pBCTQ). A second aim was to investigate the influence of treatment of CTS on insomnia and EDS.
METHODS
The validation of the pBCTQ followed the widely accepted recommendations. In our consecutive sampling survey 130 patients with CTS filled out the pBCTQ, EQ-5D-5L quality of life questionnaire, the Athens Insomnia Scale (AIS) and the Epworth Sleepiness Scale (ESS). 26 of them filled out pBCTQ once again, two weeks later, and 35 filled out the pBCTQ and other items after therapy.
RESULTS
The pBCTQ showed good internal consistency: 0.91 for SSS and 0.93 for FSS (Cronbach's α). The test-retest reliability showed an intraclass coefficient of 0.69 for SSS and 0.55 for FSS. Both subscales correlated also with nerve conduction studies (NCS) as well as with the EQ-5D-5L, AIS, and ESS. After therapy, both subscales and AIS significantly decreased. Improvement was also seen in the NCS and EQ-5D-5L, but not in the ESS.
CONCLUSIONS
The pBCTQ is a reliable, valid, and responsive tool for measuring the outcome of CTS. Therapy for CTS leads to the improvement of concurrent insomnia but may not change daytime sleepiness.
PubMed: 38948689
DOI: 10.5114/ppn.2024.136429 -
Postepy Psychiatrii Neurologii Mar 2024Tolosa-Hunt syndrome (THS) is a rare cause of painful ophtalmoplegia with different clinical manifestations. It is described as a unilateral periorbital headache with...
PURPOSE
Tolosa-Hunt syndrome (THS) is a rare cause of painful ophtalmoplegia with different clinical manifestations. It is described as a unilateral periorbital headache with concomitant dysfunction of at least one out of the IIIrd, IVth and VIth cranial nerves due to the granulomatous inflammation of periorbital structures, but no underlying cause has been established.
CASE DESCRIPTION
We present six patients referred to the Neurology Department due to a unilateral headache with ipsilateral paresis of at least one cranial nerve responsible for eye movements. The THS diagnostic criteria of the International Headache Disorders Classification (ICHD-3) were applied and analysed. Few patients had atypical clinical manifestations according to these criteria.
COMMENT
Diagnosing THS may prove very challenging. There is a lack of specific markers for the disorder, whereas diagnostic criteria leave a wide area for misdiagnosis. The diagnostic approach should be focused on the exclusion of other pathologies because typical steroid therapy may prove fatal in otherwise benign cases.
PubMed: 38948688
DOI: 10.5114/ppn.2023.135176 -
Frontiers in Endocrinology 2024Ectopic ACTH syndrome (EAS) remains one of the most demanding diagnostic and therapeutic challenges for endocrinologists. Thymic neuroendocrine tumors account for 5%-10%...
Ectopic ACTH syndrome (EAS) remains one of the most demanding diagnostic and therapeutic challenges for endocrinologists. Thymic neuroendocrine tumors account for 5%-10% of all EAS cases. We report a unique case of a 31-year-old woman with severe EAS caused by primary metastatic combined large-cell neuroendocrine carcinoma and atypical carcinoid of the thymus. The patient presented with severe hypercortisolemia, which was successfully controlled with continuous etomidate infusion. Complex imaging initially failed to detect thymic lesion; however, it revealed a large, inhomogeneous, metabolically active left adrenal mass infiltrating the diaphragm, suspected of primary disease origin. The patient underwent unilateral adrenalectomy, which resulted in hypercortisolemia resolve. The pathology report showed an adenoma with adrenal infarction and necrosis. The thymic tumor was eventually revealed a few weeks later on follow-up imaging studies. Due to local invasion and rapid progression, only partial resection of the thymic tumor was possible, and the patient was started on radio- and chemotherapy.
PubMed: 38948516
DOI: 10.3389/fendo.2024.1399930 -
Cureus Jun 2024This case study highlights a 79-year-old man with chronic low back pain attributed to severe lumbar scoliosis. Physical examination revealed the unilateral absence of...
This case study highlights a 79-year-old man with chronic low back pain attributed to severe lumbar scoliosis. Physical examination revealed the unilateral absence of pectoral muscles and ipsilateral hand anomalies, indicative of Poland syndrome (PS). The patient also experienced depression due to chronic pain and PS-related anomalies. A multi-disciplinary approach proved effective in alleviating both pain and depression.
PubMed: 38947143
DOI: 10.7759/cureus.63349 -
World Journal of Gastroenterology Jun 2024Metabolic dysfunction-associated fatty liver disease (MAFLD) is a hepatic manifestation of the metabolic syndrome. It is one of the most common liver diseases worldwide... (Review)
Review
Metabolic dysfunction-associated fatty liver disease (MAFLD) is a hepatic manifestation of the metabolic syndrome. It is one of the most common liver diseases worldwide and shows increasing prevalence rates in most countries. MAFLD is a progressive disease with the most severe cases presenting as advanced fibrosis or cirrhosis with an increased risk of hepatocellular carcinoma. Gut microbiota play a significant role in the pathogenesis and progression of MAFLD by disrupting the gut-liver axis. The mechanisms involved in maintaining gut-liver axis homeostasis are complex. One critical aspect involves preserving an appropriate intestinal barrier permeability and levels of intestinal lumen metabolites to ensure gut-liver axis functionality. An increase in intestinal barrier permeability induces metabolic endotoxemia that leads to steatohepatitis. Moreover, alterations in the absorption of various metabolites can affect liver metabolism and induce liver steatosis and fibrosis. Glucagon-like peptide-1 receptor agonists (GLP-1 RAs) are a class of drugs developed for the treatment of type 2 diabetes mellitus. They are also commonly used to combat obesity and have been proven to be effective in reversing hepatic steatosis. The mechanisms reported to be involved in this effect include an improved regulation of glycemia, reduced lipid synthesis, β-oxidation of free fatty acids, and induction of autophagy in hepatic cells. Recently, multiple peptide receptor agonists have been introduced and are expected to increase the effectiveness of the treatment. A modulation of gut microbiota has also been observed with the use of these drugs that may contribute to the amelioration of MAFLD. This review presents the current understanding of the role of the gut-liver axis in the development of MAFLD and use of members of the GLP-1 RA family as pleiotropic agents in the treatment of MAFLD.
Topics: Humans; Glucagon-Like Peptide-1 Receptor; Gastrointestinal Microbiome; Liver; Non-alcoholic Fatty Liver Disease; Animals; Metabolic Syndrome; Hypoglycemic Agents; Diabetes Mellitus, Type 2; Incretins; Intestinal Mucosa; Glucagon-Like Peptide-1 Receptor Agonists
PubMed: 38946874
DOI: 10.3748/wjg.v30.i23.2964 -
Nanoscale Jun 2024Detection of lysozyme levels in ocular fluids is considered crucial for diagnosing and monitoring various health and eye conditions, including dry-eye syndrome....
Detection of lysozyme levels in ocular fluids is considered crucial for diagnosing and monitoring various health and eye conditions, including dry-eye syndrome. Hydrogel-based nanocomposites have been demonstrated to be one of the most promising platforms for fast and accurate sensing of different biomolecules. In this work, hydrogel, electrospun nanofibers, and plasmonic nanoparticles are combined to fabricate a sensitive and easy-to-use biosensor for lysozyme. Poly(L-lactide--caprolactone) (PLCL) nanofibers were covered with silver nanoplates (AgNPls), providing a stable plasmonic platform, where a poly(-isopropylacrylamide)-based (PNIPAAm) hydrogel layer allows mobility and good integration of the biomolecules. By integrating these components, the platform can also exhibit a colorimetric response to the concentration of lysozyme, allowing for easy and non-invasive monitoring. Quantitative biosensing operates on the principle of localized surface plasmon resonance (LSPR) induced by plasmonic nanoparticles. Chemical, structural, thermal, and optical characterizations were performed on each platform layer, and the platform's ability to detect lysozyme at concentrations relevant to those found in tears of patients with dry-eye syndrome and other related diseases was investigated by colorimetry and UV-Vis spectroscopy. This biosensor's sensitivity and rapid response time, alongside the easy detection by the naked eye, make it a promising tool for early diagnosis and treatment monitoring of eye diseases.
PubMed: 38940682
DOI: 10.1039/d4nr01701c -
Movement Disorders Clinical Practice Jun 2024Since the COVID-19 pandemic, movement disorder clinics have seen an increase in patients with an unusual type of tic-like symptoms: young adults with abrupt onset... (Review)
Review
BACKGROUND
Since the COVID-19 pandemic, movement disorder clinics have seen an increase in patients with an unusual type of tic-like symptoms: young adults with abrupt onset complex behaviors. It was quickly suspected that these patients suffered from functional neurological symptoms, later named Functional Tic-Like Behaviors (FTLB). Subsequent research on the differential diagnosis between FTLB and tics has been substantial and led to the development of diagnostic checklists.
OBJECTIVES
We conducted a theoretical reappraisal of the FTLB literature to clarify the validity of the concept and its diagnostic implications.
METHODS
This paper addresses several key aspects of the current FTLB literature: circular reasoning, the complications of the FTLB phenomenology and demographics, the impact of FTLB on tic literature at large, and issues with alignment of the FTLB concept with the diagnostic criteria for functional disorders.
RESULTS
The clinical approach to FTLB might involve circular reasoning due to a lack of clinical benchmarks. The FTLB phenomenology and demographics may need more work to ensure a lack of bias and a proper description of this patient group including a clear distinction from tics. The impact of the FTLB discussion on the wider literature needs consideration. The validation of positive signs may help with both these endeavors and pave way to the inclusion of FTLB within psychiatric classification systems. Furthermore, the coexistence of FTLB and tics within the same patient needs to be addressed.
CONCLUSION
More research may be needed to fully establish the diagnosis of FTLB and differentiate it from tics.
PubMed: 38940477
DOI: 10.1002/mdc3.14150 -
Annals of Agricultural and... Jun 2024The NAA10 gene encodes N-alpha-acetyltransferase 10 which plays an important role in cell growth, differentiation, DNA damage, metastasis, apoptosis, stress response and... (Review)
Review
The NAA10 gene encodes N-alpha-acetyltransferase 10 which plays an important role in cell growth, differentiation, DNA damage, metastasis, apoptosis, stress response and autophagy. Defects in the NAA10 gene correlate with the diagnosis of NAA10-related syndrome (Ogden syndrome). The most common symptoms of NAA10-related syndrome are: global developmental delay, non-verbal or limited speech, autism spectrum disorder, feeding difficulties, motor delay, muscle tone disturbances, and long QT syndrome. To-date, there are about 100 patients who have been reported with this condition. The case report presents the clinical study of a girl aged 4 years and 3 months diagnosed with Ogden syndrome. She had many characteristic features of the disorder, as well as precocious puberty. This girl represents the case of a patient with p.Arg83Cys mutation in NAA10 gene as well as precocious puberty.
Topics: Humans; Female; Puberty, Precocious; N-Terminal Acetyltransferase A; N-Terminal Acetyltransferase E; Child, Preschool; Mutation
PubMed: 38940118
DOI: 10.26444/aaem/171758 -
Annals of Agricultural and... Jun 2024Multiple endocrine neoplasia type 2B (MEN 2B) is a rare autosomal dominant hereditary cancer syndrome which is characterized by the appearance of medullary thyroid...
Multiple endocrine neoplasia type 2B (MEN 2B) is a rare autosomal dominant hereditary cancer syndrome which is characterized by the appearance of medullary thyroid carcinoma (MTC), pheochromocytoma, parathyroid adenomas, ganglioneuromas of the digestive tract, and musculoskeletal abnormalities. The case is presented of a 31-year-old male patient with numerous polyps in the colon described as ganglioneuromas which are ectodermal neoplasms emerging from a proliferation of ganglionic cells of the sympathetic nervous system. The results show elevated levels of normetanephrine, which is an endogenous catecholamine metabolite, and has high diagnostic sensitivity as well as specificity in pheochromocytoma detection. The patient underwent partial thyreoidectomy due to a nodular goiter. He was admitted to the Department of Gastroenterology to lead a diagnostic pathway towards MEN 2B.
Topics: Humans; Male; Adult; Multiple Endocrine Neoplasia Type 2b; Ganglioneuroma
PubMed: 38940117
DOI: 10.26444/aaem/171736 -
Przeglad Gastroenterologiczny 2024is a common medicinal plant widely cultivated in tropical regions of the world. The outer seed coat of , obtained by cleaning the seeds, contains soluble and insoluble... (Review)
Review
The role and therapeutic effectiveness of seed husk (psyllium husk) in the prevention and non-pharmacological treatment of gastrointestinal diseases. Part 1. Clinical use of psyllium husk in the treatment of irritable bowel syndrome, ulcerative colitis, and colorectal cancer.
is a common medicinal plant widely cultivated in tropical regions of the world. The outer seed coat of , obtained by cleaning the seeds, contains soluble and insoluble fibre in a ratio of 7:3, making products containing husk an ideal source of health-beneficial fibre. The results of clinical trials demonstrate the therapeutic efficacy of psyllium husk for various gastrointestinal disorders. It has also been documented that psyllium ingestion exhibits antioxidant, immunomodulatory, antiproliferative, anticancer, and antiviral effects. Such pleiotropic effects of husk are related to the presence in its composition of arabinoxylan, which forms a gel in an aqueous environment, as well as bioactive compounds and their metabolites. This article presents the evidence available in the literature on the therapeutic potential and possible mechanisms of action of psyllium in the treatment of irritable bowel syndrome and ulcerative colitis, and prevention of colorectal cancer.
PubMed: 38939069
DOI: 10.5114/pg.2024.139209