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Diabetologia Oct 2012FTO gene single nucleotide polymorphisms (SNPs) have been shown to be associated with obesity-related traits and type 2 diabetes. Several small studies have suggested a... (Meta-Analysis)
Meta-Analysis Review
AIMS/HYPOTHESIS
FTO gene single nucleotide polymorphisms (SNPs) have been shown to be associated with obesity-related traits and type 2 diabetes. Several small studies have suggested a greater than expected effect of the FTO rs9939609 SNP on weight in polycystic ovary syndrome (PCOS). We therefore aimed to examine the impact of FTO genotype on BMI and weight in PCOS.
METHODS
A systematic search of medical databases (PubMed, EMBASE and Cochrane CENTRAL) was conducted up to the end of April 2011. Seven studies describing eight distinct PCOS cohorts were retrieved; seven were genotyped for SNP rs9939609 and one for SNP rs1421085. The per allele effect on BMI and body weight increase was calculated and subjected to meta-analysis.
RESULTS
A total of 2,548 women with PCOS were included in the study; 762 were TT homozygotes, 1,253 had an AT/CT genotype, and 533 were AA/CC homozygotes. Each additional copy of the effect allele (A/C) increased the BMI by a mean of 0.19 z score units (95% CI 0.13, 0.24; p = 2.26 × 10(-11)) and body weight by a mean of 0.20 z score units (95% CI 0.14, 0.26; p = 1.02 × 10(-10)). This translated into an approximately 3.3 kg/m(2) increase in BMI and an approximately 9.6 kg gain in body weight between TT and AA/CC homozygotes. The association between FTO genotypes and BMI was stronger in the cohorts with PCOS than in the general female populations from large genome-wide association studies. Deviation from an additive genetic model was observed in heavier populations.
CONCLUSIONS/INTERPRETATION
The effect of FTO SNPs on obesity-related traits in PCOS seems to be more than two times greater than the effect found in large population-based studies. This suggests an interaction between FTO and the metabolic context or polygenic background of PCOS.
Topics: Adult; Alpha-Ketoglutarate-Dependent Dioxygenase FTO; Body Mass Index; Body Weight; Female; Genotype; Humans; Obesity; Outcome Assessment, Health Care; Polycystic Ovary Syndrome; Polymorphism, Single Nucleotide; Proteins
PubMed: 22801903
DOI: 10.1007/s00125-012-2638-6 -
European Review For Medical and... Jan 2017Thyroid disorders, especially Hashimoto's thyroiditis (HT), are observed significantly more often in patients with polycystic ovary syndrome (PCOS) than in the general... (Review)
Review
OBJECTIVE
Thyroid disorders, especially Hashimoto's thyroiditis (HT), are observed significantly more often in patients with polycystic ovary syndrome (PCOS) than in the general population - approximately 27% and 8%, respectively. This is extremely important in young women, because both disorders are connected with fertility problems. As HT and PCOS occur together, fertility problems may become a serious clinical issue in these patients.
MATERIALS AND METHODS
A systematic literature review in PubMed of PCOS- and HT-related articles in English, published until December 2015 was conducted.
RESULTS
The reasons for joint prevalence still remain unclear. Genetic and autoimmune backgrounds are recognized to be possible common etiological factors. Three genetic polymorphisms have been described to play a role in PCOS as well as in HT. They are polymorphism of the gene for fibrillin 3 (FBN3) regulating the activity of transforming growth factor-b (TGF-b) and regulatory T cell levels, gonadotropin-releasing hormone receptor (GnRHR) polymorphism and CYP1B1 polymorphism standing for estradiol hydroxylation. High estrogen-to-progesterone ratios owing to anovulatory cycles, as well as high estrogen levels during prenatal life, disrupt development of the thymus and its function in maintaining immune tolerance, and are suspected to enhance autoimmune response in PCOS. Vitamin D deficiency could be also involved in the pathogenesis of HT and PCOS.
CONCLUSIONS
The above-mentioned common etiological factors associated with fertility problems in HT and PCOS require further research.
Topics: Cytochrome P-450 CYP1B1; Female; Fibrillins; Hashimoto Disease; Humans; Polycystic Ovary Syndrome; Receptors, LHRH; Transforming Growth Factor beta
PubMed: 28165551
DOI: No ID Found -
Frontiers in Public Health 2023As face masks became mandatory in most countries during the COVID-19 pandemic, adverse effects require substantiated investigation. (Meta-Analysis)
Meta-Analysis
BACKGROUND
As face masks became mandatory in most countries during the COVID-19 pandemic, adverse effects require substantiated investigation.
METHODS
A systematic review of 2,168 studies on adverse medical mask effects yielded 54 publications for synthesis and 37 studies for meta-analysis (on = 8,641, = 2,482, = 6,159, age = 34.8 ± 12.5). The median trial duration was only 18 min (IQR = 50) for our comprehensive evaluation of mask induced physio-metabolic and clinical outcomes.
RESULTS
We found significant effects in both medical surgical and N95 masks, with a greater impact of the second. These effects included decreased SpO (overall Standard Mean Difference, SMD = -0.24, 95% CI = -0.38 to -0.11, < 0.001) and minute ventilation (SMD = -0.72, 95% CI = -0.99 to -0.46, < 0.001), simultaneous increased in blood-CO (SMD = +0.64, 95% CI = 0.31-0.96, < 0.001), heart rate (N95: SMD = +0.22, 95% CI = 0.03-0.41, = 0.02), systolic blood pressure (surgical: SMD = +0.21, 95% CI = 0.03-0.39, = 0.02), skin temperature (overall SMD = +0.80 95% CI = 0.23-1.38, = 0.006) and humidity (SMD +2.24, 95% CI = 1.32-3.17, < 0.001). Effects on exertion (overall SMD = +0.9, surgical = +0.63, N95 = +1.19), discomfort (SMD = +1.16), dyspnoea (SMD = +1.46), heat (SMD = +0.70), and humidity (SMD = +0.9) were significant in = 373 with a robust relationship to mask wearing ( < 0.006 to < 0.001). Pooled symptom prevalence ( = 8,128) was significant for: headache (62%, < 0.001), acne (38%, < 0.001), skin irritation (36%, < 0.001), dyspnoea (33%, < 0.001), heat (26%, < 0.001), itching (26%, < 0.001), voice disorder (23%, < 0.03), and dizziness (5%, = 0.01).
DISCUSSION
Masks interfered with O-uptake and CO-release and compromised respiratory compensation. Though evaluated wearing durations are shorter than daily/prolonged use, outcomes independently validate mask-induced exhaustion-syndrome (MIES) and down-stream physio-metabolic disfunctions. MIES can have long-term clinical consequences, especially for vulnerable groups. So far, several mask related symptoms may have been misinterpreted as long COVID-19 symptoms. In any case, the possible MIES contrasts with the WHO definition of health.
CONCLUSION
Face mask side-effects must be assessed (risk-benefit) against the available evidence of their effectiveness against viral transmissions. In the absence of strong empirical evidence of effectiveness, mask wearing should not be mandated let alone enforced by law.
SYSTEMATIC REVIEW REGISTRATION
https://www.crd.york.ac.uk/prospero/display_record.php?ID=CRD42021256694, identifier: PROSPERO 2021 CRD42021256694.
Topics: Humans; Young Adult; Adult; Middle Aged; COVID-19; Masks; SARS-CoV-2; Pandemics; Carbon Dioxide; Post-Acute COVID-19 Syndrome; Respiratory Protective Devices; Dyspnea
PubMed: 37089476
DOI: 10.3389/fpubh.2023.1125150 -
Medicine Dec 2015Although Meigs' syndrome is regarded as a well-defined entity, contradictory data on pleural fluid characteristics have been presented, with some papers classifying it... (Review)
Review
Although Meigs' syndrome is regarded as a well-defined entity, contradictory data on pleural fluid characteristics have been presented, with some papers classifying it as a transudate, whereas others stating that it is an exudate.The aims of the study were: (1) to evaluate pleural fluid characteristics in patients with Meigs' syndrome and (2) to analyze the prevalence of transudative and exudative pleural effusion in relation to the applied definition of the syndrome.We performed a search through medical databases (MEDLINE, EMBASE, SCOPUS, and GOOGLE SCHOLAR) to identify papers on Meigs' syndrome published between 1940 and 2013. Two authors independently reviewed each paper searching for prespecified data: (1) signs and symptoms, (2) tumor characteristics, (3) clinical and laboratory data on ascites, (4) clinical, radiological, and laboratory data on pleural fluid, (5) clinical course after tumor removal. All case reports were reclassified according to a new unequivocal classification of Meigs' syndrome-related entities.A total of 653 papers were initially identified, and 454 articles reporting 541 patients were included in the final analysis. After reclassification according to our case definitions, there were 196, 113, and 108 patients defined as classic Meigs' syndrome, nonclassic Meigs' syndrome, and pseudo-Meigs' syndrome, respectively. Significantly more patients presented with right-sided than left-sided and bilateral pleural effusions (P < 0.001). Median volume of withdrawn pleural fluid was 2950 (1500-6000) mL. The classification of pleural effusion with the use of Light's criteria was possible in only 7 patients. In 6 of these patients pleural effusion met the criteria for an exudate. When the protein concentration > 3.0 g/dL was applied as a criterion of pleural exudate, 88.8% (80/90) of effusions were classified as exudates. Increasing the cut-off level to 3.5 g/dL resulted in only a modest decrease in the percentage of exudative effusions (81%, 73/90).Surprisingly few reports on Meigs' syndrome present data reliably defining the character of pleural effusion. The available data indicate, however, that the majority of pleural effusions in patients with this entity are exudates. This finding may be a prerequisite for the verification of some earlier presented concepts.
Topics: Female; Humans; Meigs Syndrome; Pleural Effusion; Prevalence
PubMed: 26656338
DOI: 10.1097/MD.0000000000002114 -
Kidney International Sep 2022Primary Coenzyme Q10 deficiency is a rare mitochondriopathy with a wide spectrum of organ involvement, including steroid-resistant nephrotic syndrome mainly associated...
Primary Coenzyme Q10 deficiency is a rare mitochondriopathy with a wide spectrum of organ involvement, including steroid-resistant nephrotic syndrome mainly associated with disease-causing variants in the genes COQ2, COQ6 or COQ8B. We performed a systematic literature review, PodoNet, mitoNET, and CCGKDD registries queries and an online survey, collecting comprehensive clinical and genetic data of 251 patients spanning 173 published (47 updated) and 78 new cases. Kidney disease was first diagnosed at median age 1.0, 1.2 and 9.8 years in individuals with disease-causing variants in COQ2, COQ6 and COQ8B, respectively. Isolated kidney involvement at diagnosis occurred in 34% of COQ2, 10.8% of COQ6 and 70.7% of COQ8B variant individuals. Classic infantile multiorgan involvement comprised 22% of the COQ2 variant cohort while 47% of them developed neurological symptoms at median age 2.7 years. The association of steroid-resistant nephrotic syndrome and sensorineural hearing loss was confirmed as the distinctive phenotype of COQ6 variants, with hearing impairment manifesting at average age three years. None of the patients with COQ8B variants, but 50% of patients with COQ2 and COQ6 variants progressed to kidney failure by age five. At adult age, kidney survival was equally poor (20-25%) across all disorders. A number of sequence variants, including putative local founder mutations, had divergent clinical presentations, in terms of onset age, kidney and non-kidney manifestations and kidney survival. Milder kidney phenotype was present in those with biallelic truncating variants within the COQ8B variant cohort. Thus, significant intra- and inter-familial phenotype variability was observed, suggesting both genetic and non-genetic modifiers of disease severity.
Topics: Ataxia; Genetic Association Studies; Humans; Mitochondrial Diseases; Muscle Weakness; Mutation; Nephrotic Syndrome; Steroids; Ubiquinone
PubMed: 35483523
DOI: 10.1016/j.kint.2022.02.040 -
Disability and Rehabilitation 2014This study assessed the literature to determine the efficacy and effectiveness of physiotherapy and occupational therapy interventions in the treatment of people with... (Review)
Review
PURPOSE
This study assessed the literature to determine the efficacy and effectiveness of physiotherapy and occupational therapy interventions in the treatment of people with benign joint hypermobility syndrome (BJHS).
METHODS
Published literature databases including: AMED, CINAHL, MEDLINE, EMBASE, PubMed and the Cochrane Library, in addition to unpublished databases and trial registries were searched to October 2012. All clinical trials comparing the clinical outcomes of Occupational Therapy and Physiotherapy interventions compared to non-treatment or control intervention for people with BJHS were included.
RESULTS
Of the 126 search results, 3 clinical studies satisfied the eligibility criteria. The data provides limited support for the use of wrist/hand splints for school children. While there is some support for exercise-based intervention, there is insufficient research to determine the optimal mode, frequency, dosage or type of exercise which should be delivered.
CONCLUSIONS
The current evidence-base surrounding Occupational Therapy and Physiotherapy in the management of BJHS is limited in size and quality. There is insufficient research exploring the clinical outcomes of a number of interventions including sensory integration, positioning and posture management and education. Longer term, rigorous multi-centre randomised controlled trials are warranted to begin to assess the clinical and cost-effectiveness of interventions for children and adults with BJHS. Implications for Rehabilitation There is an evidence-base to support clinician's use of proprioceptive-based exercises in adults, and either tailored or generalised physiotherapy regimes for children with BJHS. Clinicians should be cautious when considering the prescription of hand/wrist splints for school age children with BJHS, based on the current research. Until further multi-centre trials are conducted assessing the clinical and cost-effectiveness of interventions for children and adult with BJHS, clinical decision-making should be based on theoretical rather than evidence-based grounds for this population.
Topics: Clinical Trials as Topic; Humans; Joint Instability; Occupational Therapy; Physical Therapy Modalities
PubMed: 23889528
DOI: 10.3109/09638288.2013.819388 -
Journal of Clinical Medicine May 2020The novel coronavirus SARS-CoV-2 (severe acute respiratory syndrome coronavirus 2) infection has been predominantly linked to respiratory distress syndrome, but... (Review)
Review
The novel coronavirus SARS-CoV-2 (severe acute respiratory syndrome coronavirus 2) infection has been predominantly linked to respiratory distress syndrome, but gastrointestinal symptoms and hepatic injury have also been reported. The mechanism of liver injury is poorly understood and may result as a consequence of viral hepatitis, systemic inflammatory response, gut barrier and microbiome alterations, intensive care treatment or drug toxicity. The incidence of hepatopathy among patients with coronavirus disease 2019 (COVID-19) is unclear, but studies have reported liver injury in patients with SARS and Middle East respiratory syndrome (MERS). We aimed to systematically review data on the prevalence of hepatic impairments and their clinical course in SARS and MERS infections. A systematic literature search (PubMed/Embase/Cinahl/Web of Science) according to preferred reporting items for systematic review and meta-analysis protocols (PRISMA) was conducted from database inception until 17/03/2020 for studies that evaluated the incidence of hepatic abnormalities in SARS CoV-1, SARS CoV-2 and MERS infected patients with reported liver-related parameters. A total of forty-three studies were included. Liver anomalies were predominantly mild to moderately elevated transaminases, hypoalbuminemia and prolongation of prothrombin time. Histopathology varied between non-specific inflammation, mild steatosis, congestion and massive necrosis. More studies to elucidate the mechanism and importance of liver injury on the clinical course and prognosis in patients with novel SARS-CoV-2 infection are warranted.
PubMed: 32403255
DOI: 10.3390/jcm9051420 -
Frontiers in Medicine 2022Frailty, a "syndrome of loss of reserves," is a decade old concept. Initially it was used mainly in geriatrics but lately its use has been extended into other...
BACKGROUND
Frailty, a "syndrome of loss of reserves," is a decade old concept. Initially it was used mainly in geriatrics but lately its use has been extended into other specialties including surgery. Our main objective was to examine the association between frailty and mortality, between frailty and length of hospital stay (LOS) and frailty and readmission within 30 days in the emergency surgical population.
METHODS
Studies reporting on frailty in the emergency surgical population were eligible. MEDLINE (via PubMed), EMBASE, Scopus, CENTRAL, and Web of Science were searched with terms related to acute surgery and frail. We searched for eligible articles without any restrictions on the 2nd of November 2020. Odds ratios (OR) and weighted mean differences (WMD) were calculated with 95% confidence intervals (CI), using a random effect model. Risk of bias assessment was performed according to the recommendations of the Cochrane Collaboration. As the finally selected studies were either prospective or retrospective cohorts, the "Quality In Prognosis Studies" (QUIPS) tool was used.
RESULTS
At the end of the selection process 21 eligible studies with total 562.070 participants from 8 countries were included in the qualitative and the quantitative synthesis. Patients living with frailty have higher chance of dying within 30 days after an emergency surgical admission (OR: 1.99; CI: 1.76-2.21; < 0.001). We found a tendency of increased LOS with frailty in acute surgical patients (WMD: 4.75 days; CI: 1.79-7.71; = 0.002). Patients living with frailty have increased chance of 30-day readmission after discharge (OR: 1.36; CI: 1.06-1.75; = 0.015).
CONCLUSIONS
Although there is good evidence that living with frailty increases the chance of unfavorable outcomes, further research needs to be done to assess the benefits and costs of frailty screening for emergency surgical patients.
SYSTEMATIC REVIEW REGISTRATION
The review protocol was registered on the PROSPERO International Prospective Register of Systematic Reviews (CRD42021224689).
PubMed: 35433739
DOI: 10.3389/fmed.2022.811524 -
Critical Reviews in Oncology/hematology Nov 2020To provide a literature review on risk factors and strategies to prevent acute carotid blowout (CBO) syndrome in patients who underwent reirradiation (reRT) for... (Review)
Review
AIM
To provide a literature review on risk factors and strategies to prevent acute carotid blowout (CBO) syndrome in patients who underwent reirradiation (reRT) for recurrent head and neck (HN) malignancies.
PATIENTS AND METHODS
Inclusion criteria were: 1) CBO following reRT in the HN region, 2) description on patient-, tumor- or treatment-related risk factors, 3) clinical or radiological signs of threatened or impending CBO, and 4) CBO prevention strategies.
RESULTS
Thirty-five studies were selected for the analysis from five hundred seventy-seven records. Results provided indications on clinical, radiological and dosimetric parameters possibly associated with higher risk of CBO. Endovascular procedures (artery occlusion and stenting) to prevent acute massive hemorrhage in high risk patients were discussed.
CONCLUSION
Literature data are still scarce with a low level of evidence. Nevertheless, the present work provides a comprehensive review useful for clinicians as a multidisciplinary pragmatic tool in their clinical practice.
Topics: Carotid Artery Diseases; Endovascular Procedures; Head and Neck Neoplasms; Humans; Re-Irradiation; Retrospective Studies; Stents
PubMed: 32956946
DOI: 10.1016/j.critrevonc.2020.103088 -
Polskie Archiwum Medycyny Wewnetrznej Nov 2008Anorexia-cachexia syndrome (ACS) often occurs in patients with advanced cancer. (Meta-Analysis)
Meta-Analysis Review
INTRODUCTION
Anorexia-cachexia syndrome (ACS) often occurs in patients with advanced cancer.
OBJECTIVES
To review the effect of megestrol acetate (MA) in patients with ACS.
PATIENTS AND METHODS
To identify eligible studies, systematic review by Lopez et al. (2004) was used, electronic databases (MEDLINE, EMBASE and CENTRAL) were searched and reference lists of included studies were reviewed. The studies were included in the review if they were randomized, enrolled patients with non-hormone-sensitive cancer and ACS and assessed the effects of MA compared with placebo, other drugs or different doses of MA.
RESULTS
The study population is characterized by high mortality and progressive weight loss irrespective of the treatment. Compared to placebo, the effect of MA on survival is similar, but MA increases appetite (number needed to treat [NNT]: 3) and leads to weight gain (NNT: 8) in more patients. The data on other aspects of the quality of life are limited. The comparison of MA and glucocorticosteroids showed no statistical difference in their effect on appetite and weight.
CONCLUSIONS
Compared to placebo, MA reduces the symptoms of ACS, with no effect on survival. The beneficial effect of MA on the overall quality of life has not been confirmed. In identified studies the effect of MA and glucocorticosteroids on anorexia and cachexia is similar. The estimation of the treatment utility in ACS depends on the weight attributed to discomfort caused by symptoms, adverse effects of the drugs and the treatment cost. Because of the low quality of the included studies a new randomized controlled trial is needed for valid assessment of the effects of MA.
Topics: Anorexia; Appetite; Appetite Stimulants; Body Weight; Cachexia; Dose-Response Relationship, Drug; Humans; Megestrol Acetate; Neoplasms; Randomized Controlled Trials as Topic; Syndrome; Treatment Outcome
PubMed: 19140567
DOI: No ID Found