-
Immunity & Ageing : I & A Nov 2023Aging is a biological event that influences many organs and systems. Both sarcopenia and frailty syndrome refer to geriatric conditions with overlapping phenotypes. Many...
Aging is a biological event that influences many organs and systems. Both sarcopenia and frailty syndrome refer to geriatric conditions with overlapping phenotypes. Many mechanisms are involved in the aging process such as DNA methylation telomeres which are susceptible to oxidative stress, and inflammations which result in telomere shortening, leading to chromosomal instability. The study aimed to determine the associations between these processes, frailty and sarcopenia syndrome. Global DNA methylation was analyzed using the ELISA method. Telomere length was analyzed using qPCR. Total oxidative status (TOS) was analyzed using a colorimetric method. The present study revealed that the main factor affecting methylation, telomeres length and level of total oxidant stress was age.
PubMed: 37964387
DOI: 10.1186/s12979-023-00384-2 -
Hand (New York, N.Y.) Nov 2022Moebius syndrome is a disorder characterized by facial and abducens nerve paralysis. Patients can present a wide range of upper extremity malformations. Literature...
BACKGROUND
Moebius syndrome is a disorder characterized by facial and abducens nerve paralysis. Patients can present a wide range of upper extremity malformations. Literature focused on orthopedic manifestations of Moebius syndrome shows variability in the prevalence and clinical presentation of upper extremity anomalies. The aim of this work is to evaluate the prevalence of upper extremity malformations in patients with Moebius syndrome, clarify its various clinical presentations, and present treatment strategies for their management.
METHODS
This is a retrospective, cross-sectional study including patients with Moebius syndrome and upper extremity malformations between 2012 and 2019. Data include demographic characteristics, Moebius syndrome subtype, type of malformation, affected extremity, and surgical procedures underwent. Quantitative data were recorded as mean (standard deviation [SD]), and qualitative data were expressed in terms of totals and percentages. Statistical association between Moebius syndrome subtype and development of upper extremity anomalies was evaluated using binary logistic regression.
RESULTS
Twenty-five out of 153 patients (16.3%) presented upper extremity malformations (48% male). Mean age of presentation was 9.08 ± 9.43 years. Sixty-eight percent of the malformations were unilateral. The most common presentations included Poland syndrome and simple syndactyly with 8 cases each (32%), followed by 5 cases of brachysyndactyly (20%), 3 cases of amniotic band syndrome (12%), and 1 case of cleft hand (4%). No statistical association was found between Moebius syndrome subtype and odds ratio for development of upper extremity anomalies. Thirteen patients (52%) underwent reconstructive procedures.
CONCLUSION
Poland syndrome and syndactyly are the most common anomalies in patients with Moebius syndrome. Patients may present with a wide range of hand malformations, each patient should be carefully evaluated in order to determine whether surgical treatment is needed and to optimize rehabilitation protocols.
Topics: Infant, Newborn; Humans; Male; Child; Adolescent; Female; Mobius Syndrome; Poland Syndrome; Retrospective Studies; Prevalence; Cross-Sectional Studies; Hand Deformities
PubMed: 33641474
DOI: 10.1177/1558944721994265 -
Parkinsonism & Related Disorders May 2023Despite various neurologic symptoms of Poland syndrome (PS), parkinsonism was never reported in PS, and the response to the treatment of parkinsonism was not studied...
Despite various neurologic symptoms of Poland syndrome (PS), parkinsonism was never reported in PS, and the response to the treatment of parkinsonism was not studied before. We report a case of ipsilateral parkinsonism in PS, similar to hemiatrophy-hemiparkinsonism, with a good response to levodopa and subthalamic deep brain stimulation.
Topics: Humans; Poland Syndrome; Parkinson Disease; Atrophy; Parkinsonian Disorders; Levodopa
PubMed: 37084521
DOI: 10.1016/j.parkreldis.2023.105402 -
Biochemical Pharmacology Aug 2023Asymmetric dimethylarginine (ADMA), an endogenous inhibitor of nitric oxide (NO) synthesis, is a risk factor for endothelial dysfunction, a common pathophysiological...
The effect of exenatide (a GLP-1 analogue) and sitagliptin (a DPP-4 inhibitor) on asymmetric dimethylarginine (ADMA) metabolism and selected biomarkers of cardiac fibrosis in rats with fructose-induced metabolic syndrome.
Asymmetric dimethylarginine (ADMA), an endogenous inhibitor of nitric oxide (NO) synthesis, is a risk factor for endothelial dysfunction, a common pathophysiological denominator for both atherogenesis and cardiac fibrosis. We aimed to investigate whether the cardioprotective and antifibrotic effects of incretin drugs, exenatide and sitagliptin, may be associated with their ability to affect circulating and cardiac ADMA metabolism. Normal and fructose-fed rats were treated with sitagliptin (5.0/10 mg/kg) or exenatide (5/10 µg/kg) for 4 weeks. The following methods were used: LC-MS/MS, ELISA, Real-Time-PCR, colorimetry, IHC and H&E staining, PCA and OPLS-DA projections. Eight-week fructose feeding resulted in an increase in plasma ADMA and a decrease in NO concentration. Exenatide administration into fructose-fed rats reduced the plasma ADMA level and increased NO level. In the heart of these animals exenatide administration increased NO and PRMT1 level, reduced TGF-ß1, α-SMA levels and COL1A1 expression. In the exenatide treated rats renal DDAH activity positively correlated with plasma NO level and negatively with plasma ADMA level and cardiac α-SMA concentration. Sitagliptin treatment of fructose-fed rats increased plasma NO concentration, reduced circulating SDMA level, increased renal DDAH activity and reduced myocardial DDAH activity. Both drugs attenuated the myocardial immunoexpression of Smad2/3/P and perivascular fibrosis. In the metabolic syndrome condition both sitagliptin and exenatide positively modulated cardiac fibrotic remodeling and circulating level of endogenous NOS inhibitors but had no effects on ADMA levels in the myocardium.
Topics: Rats; Animals; Sitagliptin Phosphate; Dipeptidyl-Peptidase IV Inhibitors; Exenatide; Metabolic Syndrome; Fructose; Chromatography, Liquid; Tandem Mass Spectrometry; Hypoglycemic Agents; Fibrosis; Arginine; Protease Inhibitors; Biomarkers; Glucagon-Like Peptide 1; Amidohydrolases; Nitric Oxide
PubMed: 37290595
DOI: 10.1016/j.bcp.2023.115637 -
Journal of Applied Genetics Sep 2021Smith-Lemli-Opitz syndrome (SLOS) belongs to a group of multiple congenital anomaly/developmental delay disorders. Its primary cause lies in the defect in cholesterol...
Smith-Lemli-Opitz syndrome (SLOS) belongs to a group of multiple congenital anomaly/developmental delay disorders. Its primary cause lies in the defect in cholesterol biosynthesis-7-dehydrocholesterol reductase (DHCR7)-caused by pathogenic variants in the homonymous gene. Anthropometric anomalies, especially growth restriction and microcephaly, are among the most common physical manifestations of SLOS. There have been no studies analyzing the correlation between genotype, biochemical marker (7-dehydrocholesterol), and the birth and growth parameters for individuals with SLOS. This paper presents anthropometric data from the group of 65 Polish patients (aged 0.1 to 18 years) with Smith-Lemli-Opitz syndrome, with genotype and biochemical correlations for birth parameters, as well as growth in relation to molecular DHCR7 variants.
Topics: Adolescent; Anthropometry; Child; Child, Preschool; Genotype; Humans; Infant; Oxidoreductases Acting on CH-CH Group Donors; Poland; Smith-Lemli-Opitz Syndrome
PubMed: 33890232
DOI: 10.1007/s13353-021-00632-5 -
Frontiers in Neurology 2023Post COVID-19 syndrome is determined as signs and symptoms that appear during or after an infection consistent with SARS-CoV-2 disease, persist for more than 12 weeks... (Review)
Review
Post COVID-19 syndrome is determined as signs and symptoms that appear during or after an infection consistent with SARS-CoV-2 disease, persist for more than 12 weeks and are not explained by an alternative diagnosis. This review presents the neuropathological findings and imaging findings in Post COVID-19 Neurological Syndrome: the focal point is on the manifestations of involvement evident on brain and spine imaging.
PubMed: 36846139
DOI: 10.3389/fneur.2023.1136348 -
Aesthetic Plastic Surgery Oct 2019Breast hypoplasia or amastia with pectoralis major muscle defect in female Poland syndrome patients always necessitates surgical intervention. This study aims to...
BACKGROUND
Breast hypoplasia or amastia with pectoralis major muscle defect in female Poland syndrome patients always necessitates surgical intervention. This study aims to introduce an efficient endoscopic technique to perform breast reconstruction in Poland syndrome patients with a latissimus dorsi myo flap and an implant using a single transverse axillary incision (ELDM + IMPLANT) and to evaluate its safety and effectiveness.
METHODS
A prospective study was designed to recruit Poland syndrome candidates for ELDM + IMPLANT breast reconstruction. Only one transaxillary incision was made to harvest the LDM flap and create the anterior chest wall pocket. The LDM flap was transposed to the front to reconstruct the breast with a silicone implant. Patient demographics, LDM area, implant size, contralateral symmetry surgery, operative time and post-operative complications were collected. The BREAST-Q reconstruction module was used to evaluate patient quality of life. The disabilities of the arm, shoulder and hand (DASH) outcome questionnaire was used to evaluate patient upper extremity disabilities.
RESULTS
Sixteen eligible patients were recruited and received ELDM + IMPLANT-BR. Mean endoscopic time for LDM flap harvesting was 61.6 min. All of the 16 patients recovered uneventfully without any significant complications. The post-operative scores of satisfaction with breast and psychosocial well-being were significantly higher than the pre-operative ones. The score of DASH was 7.1 pre-operatively and 8.3 post-operatively with no significant difference either. The score of satisfaction with outcome was 80.0.
CONCLUSIONS
Our proposed ELDM + IMPLANT technique provides a safe and efficient way to reconstruct breasts in Poland syndrome patients with a high satisfaction rate, optimized aesthetic outcome and minimized donor site morbidity.
LEVEL OF EVIDENCE IV
This journal requires that authors assign a level of evidence to each article. For a full description of these evidence-based medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .
Topics: Adult; Axilla; Breast Diseases; Cohort Studies; Endoscopy; Esthetics; Female; Follow-Up Studies; Graft Survival; Humans; Mammaplasty; Middle Aged; Minimally Invasive Surgical Procedures; Patient Selection; Poland Syndrome; Prospective Studies; Risk Assessment; Superficial Back Muscles; Surgical Flaps; Tissue and Organ Harvesting; Young Adult
PubMed: 30877446
DOI: 10.1007/s00266-019-01346-0 -
Medicina (Kaunas, Lithuania) Sep 2020Depression is a serious problem affecting people worldwide, however it more commonly concerns women. Depression reduces the quality of life and, in many cases, leads to...
Depression is a serious problem affecting people worldwide, however it more commonly concerns women. Depression reduces the quality of life and, in many cases, leads to suicide. Numerous new biological factors have been demonstrated to have an impact on the pathogenesis of depression, including vitamin D, thyroid hormones, as well as factors related to heart disease. The aim of the study was to assess the impact of serum thyroid stimulating hormone (TSH) and vitamin D concentrations as well as metabolic syndrome on the severity of depression in Polish postmenopausal women from urban and rural areas. The study was conducted in 2018-2019 in the Lublin region, Poland, and comprised 396 postmenopausal women (239 living in rural areas and 157 living in urban areas). Metabolic syndrome criteria according to the International Diabetes Federation and Beck Depression Inventory were used, and laboratory blood tests were performed. A significantly higher percentage of the examined rural residents had moderate or severe depression in comparison to the urban ones ( = 0.049). The examined women from rural areas had a significantly higher serum vitamin D concentration in comparison to the urban ones ( < 0.001). The rural residents more commonly had below-normal levels of serum TSH and less commonly had normal levels in comparison to the urban residents. Metabolic syndrome was found in 70% of the rural residents, and that number was significantly lower in the urban ones (22%, < 0.001). The severity of depression in postmenopausal Polish women was correlated negatively with the serum TSH concentration in women from rural areas. The severity of depression was increased in urban postmenopausal women with hypertension. No correlation of the depression severity with the serum vitamin D concentration or other criteria of metabolic syndrome was found.
Topics: Depression; Female; Humans; Metabolic Syndrome; Poland; Postmenopause; Quality of Life; Rural Population; Thyrotropin; Urban Population; Vitamin D
PubMed: 33008063
DOI: 10.3390/medicina56100511 -
Advances in Clinical and Experimental... Apr 2022Heart failure (HF) is a pathophysiologically complex disease that is exceptionally heterogeneous in terms of its etiology. It is associated with unsatisfactorily high... (Review)
Review
Heart failure (HF) is a pathophysiologically complex disease that is exceptionally heterogeneous in terms of its etiology. It is associated with unsatisfactorily high mortality, both in-hospital and post-discharge, as well as with very frequent rehospitalizations. High phenotypic variability, coexistence of various hemodynamic disorders (such as changes in systemic and pulmonary vascular resistance, increased central venous pressure, impaired heart cardiac output, and fluid overload) and coexisting metabolic and neurohormonal disorders may eventually lead to impaired systemic perfusion. Congestion that impairs renal perfusion has a significant impact on both glomerular filtration and the renal tubular function. This review article discusses the importance of changes caused by HF in various nephron segments, phenotyping of cardiorenal syndromes, the role of effective natriuresis in decongestion, and the importance of known and new diagnostic biomarkers in predicting renal dysfunction. A better understanding of cardiac and renal interactions may help in selecting an effective, efficient and nephroprotective strategy of treatment for patients with HF.
Topics: Aftercare; Cardio-Renal Syndrome; Female; Heart Failure; Humans; Kidney; Male; Patient Discharge
PubMed: 34995423
DOI: 10.17219/acem/144327 -
Journal of Forensic and Legal Medicine Apr 2022Although previous cases of ethyl alcohol production by microorganisms present in the intestines, referred to as auto-brewery syndrome (ABS), have been reported, a recent...
Although previous cases of ethyl alcohol production by microorganisms present in the intestines, referred to as auto-brewery syndrome (ABS), have been reported, a recent case in our practice was characterized by the production of alcohol in the oral cavity. Our research indicates that legally significant levels of ethyl alcohol can be detected in exhaled air in cases where there has been no alcohol consumption but where the subject has oral candidiasis. In such cases, following the consumption of foods containing carbohydrates, a fermentation process occurs in the mouth, the first stage of which is glycolysis, proceeding according to the Embden-Meyerhof-Parnas pathway, which is typical in eukaryotes. The main organic substrate in this case is glucose, which is formed in the oral cavity from disaccharides (maltose, sucrose) by the activity of α-amylase. Some mutated fungal strains of the genus Candida acquire the ability to break down sucrose and produce glucoamylase. Glucose is converted into glyceraldehyde 3-phosphate and then into pyruvate. The next stage of fermentation is the decarboxylation of pyruvate into acetaldehyde, a reaction catalyzed by pyruvate decarboxylase. The final stage is the reduction of acetaldehyde to ethanol by alcohol dehydrogenase. Such endogenous production of alcohol can be confused with its consumption, which can cause not only legal, but also social and medical problems.
Topics: Ethanol; Fermentation; Glucose; Humans
PubMed: 35290834
DOI: 10.1016/j.jflm.2022.102333