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Orphanet Journal of Rare Diseases Mar 2015Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare autosomal recessive disorder of the urea cycle. HHH has a panethnic distribution, with a... (Review)
Review
BACKGROUND
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare autosomal recessive disorder of the urea cycle. HHH has a panethnic distribution, with a major prevalence in Canada, Italy and Japan. Acute clinical signs include intermittent episodes of vomiting, confusion or coma and hepatitis-like attacks. Alternatively, patients show a chronic course with aversion for protein rich foods, developmental delay/intellectual disability, myoclonic seizures, ataxia and pyramidal dysfunction. HHH syndrome is caused by impaired ornithine transport across the inner mitochondrial membrane due to mutations in SLC25A15 gene, which encodes for the mitochondrial ornithine carrier ORC1. The diagnosis relies on clinical signs and the peculiar metabolic triad of hyperammonemia, hyperornithinemia, and urinary excretion of homocitrulline. HHH syndrome enters in the differential diagnosis with other inherited or acquired conditions presenting with hyperammonemia.
METHODS
A systematic review of publications reporting patients with HHH syndrome was performed.
RESULTS
We retrospectively evaluated the clinical, biochemical and genetic profile of 111 HHH syndrome patients, 109 reported in 61 published articles, and two unpublished cases. Lethargy and coma are frequent at disease onset, whereas pyramidal dysfunction and cognitive/behavioural abnormalities represent the most common clinical features in late-onset cases or during the disease course. Two common mutations, F188del and R179* account respectively for about 30% and 15% of patients with the HHH syndrome. Interestingly, the majority of mutations are located in residues that have side chains protruding into the internal pore of ORC1, suggesting their possible interference with substrate translocation. Acute and chronic management consists in the control of hyperammonemia with protein-restricted diet supplemented with citrulline/arginine and ammonia scavengers. Prognosis of HHH syndrome is variable, ranging from a severe course with disabling manifestations to milder variants compatible with an almost normal life.
CONCLUSIONS
This paper provides detailed information on the clinical, metabolic and genetic profiles of all HHH syndrome patients published to date. The clinical phenotype is extremely variable and its severity does not correlate with the genotype or with recorded ammonium/ornithine plasma levels. Early intervention allows almost normal life span but the prognosis is variable, suggesting the need for a better understanding of the still unsolved pathophysiology of the disease.
Topics: Aging; Humans; Hyperammonemia; Mutation; Origin Recognition Complex; Ornithine; Protein Conformation; Urea Cycle Disorders, Inborn
PubMed: 25874378
DOI: 10.1186/s13023-015-0242-9 -
Journal of Periodontology Jun 2017This systematic review and meta-analysis aims to investigate survival rates of dental implants placed simultaneously with graft-free maxillary sinus floor elevation... (Meta-Analysis)
Meta-Analysis
BACKGROUND
This systematic review and meta-analysis aims to investigate survival rates of dental implants placed simultaneously with graft-free maxillary sinus floor elevation (GFSFE). Factors influencing amount of vertical bone gain (VBG), protruded implant length (PIL) in sinus at follow-up (PILf), and peri-implant marginal bone loss (MBL) are also evaluated.
METHODS
Electronic and manual searches for human clinical studies on simultaneous implant placement and GFSFE using the lateral window or transcrestal approach, published in the English language from January 1976 to March 2016, were conducted. The random-effects model and mixed-effect meta-regression were used to analyze weighted mean values of clinical parameters and evaluate factors that influenced amount of VBG.
RESULTS
Of 740 studies, 22 clinical studies were included in this systematic review. A total of 864 implants were placed simultaneously with GFSFE at edentulous sites having mean residual bone height of 5.7 ± 1.7 mm. Mean implant survival rate (ISR) was 97.9% ± 0.02% (range: 93.5% to 100%). Weighted mean MBL was 0.91 ± 0.11 mm, and it was significantly associated with the postoperative follow-up period (r = 0.02; R = 43.75%). Weighted mean VBG was 3.8 ± 0.34 mm, and this parameter was affected significantly by surgical approach, implant length, and PIL immediately after surgery (PILi) (r = 2.82, 0.57, 0.80; R = 19.10%, 39.27%, 83.92%, respectively). Weighted mean PILf was 1.26 ± 0.33 mm (range: 0.3 to 2.1 mm).
CONCLUSION
Within limitations of the present systematic review, GFSFE with simultaneous implant placement can achieve satisfactory mean ISR of 97.9% ± 0.02%.
Topics: Humans; Alveolar Bone Loss; Databases, Factual; Dental Implantation, Endosseous; Dental Implants; Dental Restoration Failure; Maxilla; Maxillary Sinus; Michigan; Sinus Floor Augmentation
PubMed: 28168901
DOI: 10.1902/jop.2017.160665 -
International Journal of Molecular... Apr 2023Uterine fibroids are the most common benign tumors in women, with abnormal uterine bleeding (AUB) as the main reported symptom. Additionally, an association between... (Review)
Review
Uterine fibroids are the most common benign tumors in women, with abnormal uterine bleeding (AUB) as the main reported symptom. Additionally, an association between fibroids and infertility has been established, especially if the fibroid protrudes in the uterine cavity. Hormonal therapy is associated with side-effects and as well as hysterectomy, which is incompatible with a desire to conceive. To improve treatment, it is essential to unravel the etiology of fibroid-related symptoms. We aim to evaluate endometrial angiogenesis in women with fibroids, with and without AUB, and the influence of pharmaceutical therapies in these patients. Furthermore, we explore the possible role of altered angiogenesis in patients with fibroids and infertility. We performed a systematic review according to PRISMA-guidelines (PROSPERO: CRD42020169061), and included 15 eligible studies. Endometrial expression of vascular endothelial growth factor (VEGF) and adrenomedullin was increased in patients with fibroids. This suggests aberrant angiogenesis, potentially involving disturbed vessel maturation, resulting in immature and fragile vessels. Treatment with gonadotropin-releasing hormone agonist, ulipristal acetate, and continuous oral contraception pills reduced several angiogenic parameters, including VEGF. If infertile and fertile patients with fibroids were compared, a significant decreased expression of the bone morphogenetic protein/Smad-protein pathway was found, possibly caused by the increased expression of transforming growth factor-beta. For future therapeutic development, these different angiogenic pathways could be of interest as possible targets to treat fibroid-related symptoms.
Topics: Humans; Female; Vascular Endothelial Growth Factor A; Uterine Neoplasms; Leiomyoma; Infertility; Uterine Hemorrhage
PubMed: 37108180
DOI: 10.3390/ijms24087011 -
Healthcare (Basel, Switzerland) Jun 2022Coronavirus disease has subjected the whole of humanity to two years of social isolation and a series of restrictions. These circumstances have led to the use of... (Review)
Review
Coronavirus disease has subjected the whole of humanity to two years of social isolation and a series of restrictions. These circumstances have led to the use of information technology in an increasingly widespread manner. Even in the dental field, telematic means have been used to respond to emergencies. The aim of this systematic review of the literature is to evaluate the types of orthodontic emergency that occurred most often and how they were managed by teleorthodontics during the COVID-19 pandemic. The secondary aim is that clinicians will use teleorthodontics not only during pandemics but as an additional tool to manage orthodontics. Out of 1695 articles available on PubMed, Science Direct, Cochrane and SciELO, eight articles were selected for this systematic literature review. Google Scholar was used as a secondary source to confirm that there were no additional articles. The screened papers comprised editorials, clinical studies, cross-sectional studies and retrospective studies in Italian, English or Spanish language. The articles showed that the means by which patients most often communicated with their orthodontists were voice calls and smartphone applications such as WhatsApp Messenger. Through these media, patients communicated their orthodontic emergencies. These mainly involved fixed multibracket appliances and the most common issues were discomfort and pain, fracture or loss of the appliance, protruding distal ends of archwires, brackets, tubes and bands or retainer detachment. Through teleorthodontics, patients could solve these issues by using orthodontic relief wax, cutting the protruding distal ends of the archwire with a nail clipper or a stronger cutter and removing or replacing detached bands, brackets, tubes or metallic ligature with a clean tweezer. In situations where personal contact is limited, teleorthodontics represents a valuable aid for professionals and patients facing orthodontic emergencies. The hope is that it may continue to represent a valuable aid for patients with difficulties in planning an in-office visit.
PubMed: 35742159
DOI: 10.3390/healthcare10061108 -
Dental Press Journal of Orthodontics 2015To determine the cephalometric parameters and esthetic preferences of a pleasant face for the Japanese population. (Review)
Review
OBJECTIVE
To determine the cephalometric parameters and esthetic preferences of a pleasant face for the Japanese population.
METHODS
For the present study, the following databases were accessed: PubMed, Embase, Scopus and Web of Science. Initial inclusion criteria comprised studies written in English and quoting cephalometric norms and/or facial attractiveness in Japanese adults. No time period of publication was determined. The quality features evaluated were sample description, variables analyzed and how cephalometric standards or facial profile were evaluated.
RESULTS
Initially, 60 articles were retrieved. From the selected studies, 13 abstracts met the initial inclusion criteria. They were divided into two groups; seven articles were included in Group I and six articles in Group II, according to the criteria of evaluation: cephalometric or facial analyses.
CONCLUSION
Japanese are characterized by having a less convex skeletal profile, bilabial protrusion, less prominent nose, more retruded chin and protruded mandibular incisor. Despite living in a society with homogeneous patterns, they seem to get an esthetic preference for white-like features. Therefore, in addition to ethnic normative values, patient's preferences to establish individual treatment plans should always be considered.
Topics: Asian People; Cephalometry; Esthetics; Face; Humans; White People
PubMed: 26691969
DOI: 10.1590/2177-6709.20.6.043-051.oar -
The Cochrane Database of Systematic... May 2019Keratoconus is a degenerative condition of the cornea that profoundly affects vision and vision-specific quality of life. The axial cornea thins and protrudes, resulting...
BACKGROUND
Keratoconus is a degenerative condition of the cornea that profoundly affects vision and vision-specific quality of life. The axial cornea thins and protrudes, resulting in irregularity and, eventually, scarring of the cornea. There are multiple options available for treating keratoconus. Intrastromal corneal ring segments are small, crescent-shaped plastic rings that are placed in the deep, peripheral corneal stroma in order to flatten the cornea. They are made of polymethylmethacrylate (PMMA). The procedure does not involve corneal tissue nor does it invade the central optical zone. Intrastromal corneal ring segments are approved for use when contact lenses or spectacles are no longer adequate.
OBJECTIVES
To evaluate the effectiveness and safety of intrastromal corneal ring segments as a treatment for keratoconus.
SEARCH METHODS
We searched the Cochrane Central Register of Controlled Trials (CENTRAL) (which contains the Cochrane Eyes and Vision Trials Register) (2018, Issue 1); Ovid MEDLINE; Embase.com; PubMed; Latin American and Caribbean Health Sciences Literature Database (LILACS); ClinicalTrials.gov and the World Health Organization (WHO) International Clinical Trials Registry Platform (ICTRP). We did not implement any date or language restrictions in the electronic search for trials. We last searched the electronic databases on 25 January 2018.
SELECTION CRITERIA
Two review authors independently assessed records from the electronic searches to identify randomized controlled trials (RCTs). Disagreements were resolved by discussion.
DATA COLLECTION AND ANALYSIS
We planned for two authors to independently review full-text reports, using standard methodological procedures expected by Cochrane.
MAIN RESULTS
We found no RCTs comparing intrastromal corneal ring segments with spectacles or contact lenses.
AUTHORS' CONCLUSIONS
In the absence of eligible RCTs to review, no conclusions can be drawn.
Topics: Corneal Stroma; Corneal Transplantation; Humans; Keratoconus; Prostheses and Implants; Prosthesis Implantation
PubMed: 31087649
DOI: 10.1002/14651858.CD011150.pub2 -
Journal of Gambling Studies Dec 2023Problem gambling not only impacts gamblers but also protrudes onto several affected others who experience adverse impacts, including financial, health, relationships,... (Meta-Analysis)
Meta-Analysis Review
Problem gambling not only impacts gamblers but also protrudes onto several affected others who experience adverse impacts, including financial, health, relationships, and psychological problems. The aims of this systematic review were twofold; to identify the psychosocial interventions to minimise the harm caused to affected others of problem gambling and to assess their efficacy. This study was conducted as outlined in the research protocol PROSPERO (CRD42021239138). Database searches were conducted in CENTRAL, MEDLINE, Social Science Database, CINHAL Complete, Academic Search Ultimate and PsycINFO. Randomised controlled trials of psychosocial interventions that aimed to minimise the harm caused to affected others of problem gambling written in English were eligible for inclusion. Risk of bias for included studies was assessed using the Cochrane ROB 2.0 tool. The identified interventions focused on two approaches to supporting affected others: interventions involving both the problem gambler and affected others, and interventions involving affected others only. As the interventions and outcome measures used were sufficiently similar, a meta-analysis was conducted. The quantitative synthesis revealed that generally, treatment groups were unable to show greater benefits over control groups. The goal for future interventions aimed at affected others of problem gambling should focus primarily on the wellbeing of affected others. The standardisation of outcome measures and data collection time points for better comparison of future research is needed.
Topics: Humans; Gambling; Psychosocial Intervention
PubMed: 37294395
DOI: 10.1007/s10899-023-10220-3 -
Journal of Personalized Medicine Apr 2022Wireless capsule endoscopy allows the identification of small intestinal protruded lesions, such as polyps, tumors, or venous structures. However, reading wireless... (Review)
Review
BACKGROUND
Wireless capsule endoscopy allows the identification of small intestinal protruded lesions, such as polyps, tumors, or venous structures. However, reading wireless capsule endoscopy images or movies is time-consuming, and minute lesions are easy to miss. Computer-aided diagnosis (CAD) has been applied to improve the efficacy of the reading process of wireless capsule endoscopy images or movies. However, there are no studies that systematically determine the performance of CAD models in diagnosing gastrointestinal protruded lesions.
OBJECTIVE
The aim of this study was to evaluate the diagnostic performance of CAD models for gastrointestinal protruded lesions using wireless capsule endoscopic images.
METHODS
Core databases were searched for studies based on CAD models for the diagnosis of gastrointestinal protruded lesions using wireless capsule endoscopy, and data on diagnostic performance were presented. A systematic review and diagnostic test accuracy meta-analysis were performed.
RESULTS
Twelve studies were included. The pooled area under the curve, sensitivity, specificity, and diagnostic odds ratio of CAD models for the diagnosis of protruded lesions were 0.95 (95% confidence interval, 0.93-0.97), 0.89 (0.84-0.92), 0.91 (0.86-0.94), and 74 (43-126), respectively. Subgroup analyses showed robust results. Meta-regression found no source of heterogeneity. Publication bias was not detected.
CONCLUSION
CAD models showed high performance for the optical diagnosis of gastrointestinal protruded lesions based on wireless capsule endoscopy.
PubMed: 35455760
DOI: 10.3390/jpm12040644 -
Journal of Clinical Sleep Medicine :... Oct 2016To perform a review of the current evidence regarding the use of a remotely controlled mandibular positioner (RCMP) and to analyze the efficacy of RCMP as a predictive... (Review)
Review
The Use of Remotely Controlled Mandibular Positioner as a Predictive Screening Tool for Mandibular Advancement Device Therapy in Patients with Obstructive Sleep Apnea through Single-Night Progressive Titration of the Mandible: A Systematic Review.
STUDY OBJECTIVES
To perform a review of the current evidence regarding the use of a remotely controlled mandibular positioner (RCMP) and to analyze the efficacy of RCMP as a predictive selection tool in the treatment of obstructive sleep apnea (OSA) with oral appliances that protrude the mandible (OAm), exclusively relying on single-night RCMP titration.
METHODS
An extensive literature search is performed through PubMed.com, Thecochranelibrary.com (CENTRAL only), Embase.com, and recent conference meeting abstracts in the field.
RESULTS
A total of 254 OSA patients from four full-text articles and 5 conference meeting abstracts contribute data to the review. Criteria for successful RCMP test and success with OAm differed between studies. Study populations were not fully comparable due to range-difference in baseline apneahypopnea index (AHI). However, in all studies elimination of airway obstruction events during sleep by RCMP titration predicted OAm therapy success by the determination of the most effective target protrusive position (ETPP). A statistically significant association is found between mean AHI predicted outcome with RCMP and treatment outcome with OAm on polysomnographic or portable sleep monitoring evaluation (p < 0.05).
CONCLUSIONS
The existing evidence regarding the use of RCMP in patients with OSA indicates that it might be possible to protrude the mandible progressively during sleep under poly(somno)graphic observation by RCMP until respiratory events are eliminated without disturbing sleep or arousing the patient. ETPP as measured by the use of RCMP was significantly associated with success of OAm therapy in the reported studies. RCMP might be a promising instrument for predicting OAm treatment outcome and targeting the degree of mandibular advancement needed.
Topics: Equipment Design; Humans; Mandible; Mandibular Advancement; Polysomnography; Predictive Value of Tests; Sleep Apnea, Obstructive; Treatment Outcome
PubMed: 27568892
DOI: 10.5664/jcsm.6202 -
The Cochrane Database of Systematic... 2002Gastroschisis is a congenital anterior abdominal wall defect with the abdominal contents protruding through the defect. Reduction of the abdominal contents is required... (Review)
Review
BACKGROUND
Gastroschisis is a congenital anterior abdominal wall defect with the abdominal contents protruding through the defect. Reduction of the abdominal contents is required within hours after birth as the infant is at risk not only of water and heat loss from the exposed bowel but also of compromised gut circulation with ischaemia and infarction. To avoid the complications of general anaesthetic and mechanical ventilation it has been proposed that the reduction of abdominal contents can be achieved without endotracheal intubation or anaesthesia.
OBJECTIVES
To determine which approach to the immediate surgical treatment of gastroschisis has the better outcomes: ward reduction without general anaesthetic or reduction and repair of the abdominal wall defect under general anaesthesia.
SEARCH STRATEGY
Searches were made of MEDLINE from 1966 to March 2002, CINAHL from 1982 to March 2002, and the Cochrane Controlled Trials Register (The Cochrane Library, Issue 1, 2002). Previous reviews including cross references, abstracts, and conference and symposia proceedings published in Pediatric Research (from 1990 to 1994) were also searched, especially for any unpublished data.
SELECTION CRITERIA
Randomised, controlled trials (RCT) comparing ward reduction with reduction under general anaesthesia, for neonates with gastroschisis. Outcomes considered were: mortality, duration of total parenteral nutrition, time to full enteral feeds, need for a silo, infection, gastro-intestinal tract perforation, length of bowel lost/resected, need for a general anaesthesia, need for and duration of mechanical ventilation and respiratory support, duration of oxygen therapy, need for further operative procedure after initial reduction, duration of hospital stay, cosmetic outcome, nutritional status, and neurodevelopmental outcome.
DATA COLLECTION AND ANALYSIS
No studies were found meeting the criteria for inclusion in this review.
MAIN RESULTS
No studies were found meeting the criteria for inclusion in this review.
REVIEWER'S CONCLUSIONS
There is no evidence from RCTs to support or refute the practice of ward reduction for the immediate management of gastroschisis. There is an urgent need for RCTs to compare ward reduction versus reduction under general anaesthesia in infants with gastroschisis. Initial trials would best be limited to those infants with uncomplicated gastroschisis (using pre-defined selection criteria excluding infants that are unstable, have gut perforation, necrosis or atresia, have other organs requiring reduction besides bowel, or are considered to need a silo prior to any reduction. Trials should use adequate pain relief and specify a pre-defined time period after which manual reduction is abandoned.
Topics: Anesthesia, General; Gastroschisis; Humans; Infant, Newborn
PubMed: 12137704
DOI: 10.1002/14651858.CD003671