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Journal of Inherited Metabolic Disease Jan 2021Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is an autosomal recessive condition due to a deficiency of α-aminoadipic semialdehyde dehydrogenase, which is a key enzyme...
Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is an autosomal recessive condition due to a deficiency of α-aminoadipic semialdehyde dehydrogenase, which is a key enzyme in lysine oxidation. PDE-ALDH7A1 is a developmental and epileptic encephalopathy that was historically and empirically treated with pharmacologic doses of pyridoxine. Despite adequate seizure control, most patients with PDE-ALDH7A1 were reported to have developmental delay and intellectual disability. To improve outcome, a lysine-restricted diet and competitive inhibition of lysine transport through the use of pharmacologic doses of arginine have been recommended as an adjunct therapy. These lysine-reduction therapies have resulted in improved biochemical parameters and cognitive development in many but not all patients. The goal of these consensus guidelines is to re-evaluate and update the two previously published recommendations for diagnosis, treatment, and follow-up of patients with PDE-ALDH7A1. Members of the International PDE Consortium initiated evidence and consensus-based process to review previous recommendations, new research findings, and relevant clinical aspects of PDE-ALDH7A1. The guideline development group included pediatric neurologists, biochemical geneticists, clinical geneticists, laboratory scientists, and metabolic dieticians representing 29 institutions from 16 countries. Consensus guidelines for the diagnosis and management of patients with PDE-ALDH7A1 are provided.
Topics: Aldehyde Dehydrogenase; Arginine; Consensus; Dietary Supplements; Epilepsy; Humans; International Cooperation; Lysine; Pyridoxine
PubMed: 33200442
DOI: 10.1002/jimd.12332 -
Human Reproduction Update Aug 2021In the decade following the introduction of ICSI, a higher prevalence of de novo chromosome abnormalities, in particular sex chromosome and autosomal structural... (Meta-Analysis)
Meta-Analysis
BACKGROUND
In the decade following the introduction of ICSI, a higher prevalence of de novo chromosome abnormalities, in particular sex chromosome and autosomal structural abnormalities, as well as inherited abnormalities was described in children conceived by ICSI compared to both naturally conceived (NC) children and children conceived by standard IVF. The explanation for the observed increase in prevalence is not clear and has been suggested to reflect parental factors (e.g. age or sperm quality) or to be a result of the ICSI procedure itself. Over the years, the procedure, as well as the patient group, and indications for ICSI treatment have changed.
OBJECTIVE AND RATIONALE
The objective of this systematic review and meta-analysis was to assess the prevalence of chromosome abnormalities in ICSI pregnancies and children and to examine any potentially increased risk compared to standard IVF and NC.
SEARCH METHODS
Pubmed, Embase, Cochrane Libraries and Web of Science up to October 2020 were searched. Primary outcome measures were overall chromosome abnormalities and de novo abnormalities (including sex chromosome abnormalities and autosomal abnormalities). The secondary outcome was inherited abnormalities. We followed the PRISMA guidelines and relevant meta-analyses were performed.
OUTCOMES
The search included 4648 articles, out of which 27 met the inclusion criteria, and 19 were included in quantitative synthesis (meta-analyses). The prevalence of chromosome abnormalities varied considerably between studies, possibly explained by large differences in sample size and patient demographics. Only five studies were eligible for pooled analyses on adjusted data. All studies had a critical risk of bias. Results from pooled adjusted data showed no evidence of an increased risk of overall chromosome abnormalities when comparing ICSI to either standard IVF (aOR 0.75 (95% CI 0.41-1.38)) or NC (aOR 1.29 (95% CI 0.69-2.43)). In contrast, meta-analyses on unadjusted data showed an increased risk of overall chromosome abnormalities in ICSI compared to both standard IVF (OR 1.42 (95% CI 1.09-1.85)) and NC (OR 2.46 (95% CI 1.52-3.99)) and an increased risk of de novo abnormalities in ICSI compared to NC (OR 2.62 (95% CI 2.07-3.31)). Yet, based on a very low certainty of evidence, the conclusion remains, that no indication of an increased risk of chromosome abnormalities in ICSI offspring could be found. If an increased risk of chromosome abnormalities in selected ICSI offspring should exist, the absolute risk continues to be small.
WIDER IMPLICATIONS
This review provides an extensive overview of the existing evidence on the relationship between ICSI and chromosome abnormalities in the offspring. We highlight the need for well-designed large, prospective, controlled studies with systematic cytogenetic testing. Existing data are limited and, in many cases, marred by critical levels of bias.
Topics: Child; Chromosome Aberrations; Female; Fertilization; Fertilization in Vitro; Humans; Pregnancy; Prospective Studies; Sperm Injections, Intracytoplasmic
PubMed: 33956940
DOI: 10.1093/humupd/dmab005 -
Medicina (Kaunas, Lithuania) Mar 2023: Gaucher disease (GD) is a lysosomal storage disorder with the genetic autosomal recessive transmission. Bone involvement is a prevalent finding in Gaucher disease. It... (Review)
Review
: Gaucher disease (GD) is a lysosomal storage disorder with the genetic autosomal recessive transmission. Bone involvement is a prevalent finding in Gaucher disease. It causes deformity and limits daily activities and the quality of life. In 75% of patients, there is bone involvement. This review aims to evaluate the principal findings in the jaw by a Cone-beam computed tomography (CBTC) and X-ray orthopantomography; : PubMed, Web of Science, Lilacs and Scopus were systematically searched until 31 December 2022. In addition, a manual search was performed using the bibliography of selected articles and a Google Scholar search. Clinical studies were selected that considered principal radiographic findings in radiography in a group of patients affected by GD. : Out of 5079 papers, four studies were included. The main findings are generalized rarefaction and enlarged narrow space, anodontia. : The exact mechanism of bone manifestation is probably due to the infiltration of Gaucher cells in the bone marrow and, consequently, the destruction of bone architecture. All long bones are a potential means of skeletal manifestation. The jaw is more affected than the maxilla, and the principal features are cortical thinning, osteosclerosis, pseudocystic lesions, mental demineralization, flattening in the head of the condyle, effacement of anatomical structures, thickening of maxillary sinus mucosa. The dentist plays a crucial role in diagnosing and treating these patients. Sometimes the diagnosis can be made by a simple panoramic radiograph. All long bones are affected, and the mandible is particularly involved.
Topics: Humans; Gaucher Disease; Quality of Life; Radiography; Cone-Beam Computed Tomography; Bone Marrow
PubMed: 37109627
DOI: 10.3390/medicina59040670 -
Advances in Kidney Disease and Health May 2023Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease. It has been associated with a significant physical and psychological... (Review)
Review
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease. It has been associated with a significant physical and psychological burden, leading to a reduced quality of life. The purpose of this literature review is to summarize the patient perspective on ADPKD based on the current published literature. A systematic literature review was conducted in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Publications reporting a patient or caregiver/relative perspective of ADPKD were included. Sources searched included Medline (PubMed), Embase (Ovid), Cochrane Library, and Web of Science from inception to April 2022. This was followed by a subsequent reference and citation search. A total of 1011 articles were identified by the search process, with 28 studies included in the review. An inductive thematic analysis identified six key themes: diagnosis, monitoring, and screening; symptoms; lifestyle and dietary interventions; psychological, physical, and social impact; future planning; and interaction with the health care system. The findings of this review highlight the burden and uncertainty associated with ADPKD from a patient's perspective. This impacts patients and their caregivers/relatives at each stage of the patient's journey from screening to initiation of renal replacement therapy and future planning.
Topics: Humans; Polycystic Kidney, Autosomal Dominant; Quality of Life; Life Style
PubMed: 37088530
DOI: 10.1053/j.akdh.2023.01.002 -
Medicina (Kaunas, Lithuania) Sep 2023: Bartter syndrome (BS) is a rare group of autosomal-recessive disorders that usually presents with hypokalemic metabolic alkalosis, occasionally with hyponatremia and... (Review)
Review
: Bartter syndrome (BS) is a rare group of autosomal-recessive disorders that usually presents with hypokalemic metabolic alkalosis, occasionally with hyponatremia and hypochloremia. The clinical presentation of BS is heterogeneous, with a wide variety of genetic variants. The aim of this systematic review was to examine the available literature and provide an overview of the case reports and case series on BS. : Case reports/series published from April 2012 to April 2022 were searched through Pubmed, JSTOR, Cochrane, ScienceDirect, and DOAJ. Subsequently, the information was extracted in order to characterize the clinical presentation, laboratory results, treatment options, and follow-up of the patients with BS. : Overall, 118 patients, 48 case reports, and 9 case series ( = 70) were identified. Out of these, the majority of patients were male ( = 68). A total of 21 patients were born from consanguineous marriages. Most cases were reported from Asia (73.72%) and Europe (15.25%). In total, 100 BS patients displayed the genetic variants, with most of these being reported as Type III ( = 59), followed by Type II ( = 19), Type I ( = 14), Type IV ( = 7), and only 1 as Type V. The most common symptoms included polyuria, polydipsia, vomiting, and dehydration. Some of the commonly used treatments were indomethacin, potassium chloride supplements, and spironolactone. The length of the follow-up time varied from 1 month to 14 years. : Our systematic review was able to summarize the clinical characteristics, presentation, and treatment plans of BS patients. The findings from this review can be effectively applied in the diagnosis and patient management of individuals with BS, rendering it a valuable resource for nephrologists in their routine clinical practice.
Topics: Humans; Male; Female; Bartter Syndrome; Potassium; Hyponatremia; Spironolactone; Europe
PubMed: 37763757
DOI: 10.3390/medicina59091638 -
BMC Pediatrics Oct 2023Shwachman-Diamond syndrome (SDS) is an autosomal recessive disease which results in inherited bone marrow failure (IBMF) and is characterized by exocrine pancreatic...
BACKGROUND
Shwachman-Diamond syndrome (SDS) is an autosomal recessive disease which results in inherited bone marrow failure (IBMF) and is characterized by exocrine pancreatic dysfunction and diverse clinical phenotypes. In the present study, we reviewed the internationally published reports on SDS patients, in order to summarize the clinical features, epidemiology, and treatment of SDS.
METHODS
We searched the WangFang and China National Knowledge Infrastructure databases with the keywords "Shwachman-Diamond syndrome," "SDS," "SBDS gene" and "inherited bone marrow failure" for relevant articles published from January 2002 to October 2022. In addition, studies published from January 2002 to October 2022 were searched from the Web of Science, PubMed, and MEDLINE databases, using "Shwachman-diamond syndrome" as the keyword. Finally, one child with SDS treated in Tongji Hospital was also included.
RESULTS
The clinical features of 156 patients with SDS were summarized. The three major clinical features of SDS were found to be peripheral blood cytopenia (96.8%), exocrine pancreatic dysfunction (83.3%), and failure to thrive (83.3%). The detection rate of SDS mutations was 94.6% (125/132). Mutations in SBDS, DNAJC21, SRP54, ELF6, and ELF1 have been reported. The male-to-female ratio was approximately 1.3/1. The median age of onset was 0.16 years, but the diagnostic age lagged by a median age of 1.3 years.
CONCLUSIONS
Pancreatic exocrine insufficiency and growth failure were common initial symptoms. SDS onset occurred early in childhood, and individual differences were obvious. Comprehensive collection and analysis of case-related data can help clinicians understand the clinical characteristics of SDS, which may improve early diagnosis and promote effective clinical intervention.
Topics: Female; Humans; Infant; Male; Bone Marrow Diseases; Exocrine Pancreatic Insufficiency; Mutation; Phenotype; Shwachman-Diamond Syndrome; Signal Recognition Particle
PubMed: 37803383
DOI: 10.1186/s12887-023-04324-3 -
Journal of the American Geriatrics... Jul 2021Coexistent seizures add complexity to the burden of Alzheimer's disease (AD). We aim to estimate the incidence and prevalence of coexistent seizures and AD and summarize...
BACKGROUND/OBJECTIVES
Coexistent seizures add complexity to the burden of Alzheimer's disease (AD). We aim to estimate the incidence and prevalence of coexistent seizures and AD and summarize characteristics.
DESIGN
A systematic review and meta-analysis (PROSPERO protocol registration CRD42020150479).
SETTING
Population-, community-, hospital-, or nursing home-based.
PARTICIPANTS AND MEASUREMENTS
Thirty-nine studies reporting on seizure incidence and prevalence in 21,198 and 380,777 participants with AD, respectively, and AD prevalence in 727,446 participants with seizures. When statistical heterogeneity and inconsistency (assessed by Q statistic and I ) were not shown, rates were synthesized using random effect.
RESULTS
Studies were conducted in Australia, Brazil, Finland, France, Ireland, Italy, Japan, Netherlands, Portugal, Sweden, Taiwan, United Kingdom, and United States. The incidence of seizures among people with clinically diagnosed AD ranged from 4.2 to 31.5 per 1000 person-years. Prevalence of seizures among people with clinically diagnosed AD ranged from 1.5% to 12.7% generally, but it rose to the highest (49.5% of those with early-onset AD) in one study. Meta-analysis reported a combined seizure prevalence rate among people with pathologically verified AD at 16% (95% confidence interval [CI] 14-19). Prevalence of seizure in autosomal dominant AD (ADAD) ranged from 2.8% to 41.7%. Being younger was associated with higher risk of seizure occurrence. Eleven percent of people with adult-onset seizures had AD (95%CI, 7-14).
CONCLUSION
Seizures are common in those with AD, and seizure monitoring may be particularly important for younger adults and those with ADAD.
Topics: Aged; Aged, 80 and over; Alzheimer Disease; Comorbidity; Female; Global Health; Humans; Incidence; Male; Prevalence; Seizures
PubMed: 33740274
DOI: 10.1111/jgs.17101 -
Journal of Paediatrics and Child Health Mar 2023Spinal muscular atrophy (SMA) is an autosomal recessive hereditary disease which leads to progressive muscle weakness and atrophy. Our systematic review and... (Meta-Analysis)
Meta-Analysis Review
Spinal muscular atrophy (SMA) is an autosomal recessive hereditary disease which leads to progressive muscle weakness and atrophy. Our systematic review and meta-analysis aims to explore the efficacy and safety of onasemnogene abeparvovec in SMA patients. We searched PubMed, EMBASE, Web of Science and Cochrane through April 2022. Ten reports enrolling 250 SMA patients were included. CHOP INTEND and motor-milestone significant improvements were detected at both short- and long-term follow-up. Common adverse events included pyrexia, vomiting, thrombocytopenia and elevated aminotransferases. Thrombocytopenia (79.3%, 95%CI: 65.8~90.5) and elevated aminotransferases (71.7%, 95%CI: 62.5~80.1) were more common in SMA patients aged older than 8 months. Despite the paucity of randomized control trial data and low quality of evidence to establish the safety and efficacy of onasemnogene abeparvovec in the treatment of SMA, the data suggest that it is a valuable option for patients with this condition.
Topics: Humans; Aged; Spinal Muscular Atrophies of Childhood; Muscular Atrophy, Spinal; Genetic Therapy; Thrombocytopenia; Transaminases
PubMed: 36722610
DOI: 10.1111/jpc.16340 -
Laboratory Investigation; a Journal of... Jul 2023The Klotho protein, known as an antiaging protein, is expressed mainly in the kidney, and kidney disorders may contribute to the disrupted expression of renal Klotho.... (Review)
Review
The Klotho protein, known as an antiaging protein, is expressed mainly in the kidney, and kidney disorders may contribute to the disrupted expression of renal Klotho. The purpose of this systematic review was to determine if there are biological and nutraceutical therapies that increase the expression of Klotho and can help prevent complications associated with chronic kidney disease. A systematic literature review was carried out through the consultation of PubMed, Scopus, and Web of Science. Records between the years 2012 and 2022 in Spanish and English were selected. Cross-sectional or prevalence and analytical studies were included that evaluated the effects of Klotho therapy. A total of 22 studies were identified after the critical reading of these selected studies: 3 investigated the association between Klotho and growth factors, 2 evaluated the relationship between the concentration of Klotho and the type of fibrosis, 3 focused on the relationship between vascular calcifications and vitamin D, 2 assessed the relationship between Klotho and bicarbonate, 2 investigated the relationship between proteinuria and Klotho, 1 demonstrated the applicability of synthetic antibodies as a support for Klotho deficiency, 1 investigated Klotho hypermethylation as a renal biomarker, 2 investigated the relationship between proteinuria and Klotho, 4 linked Klotho as an early marker of chronic kidney disease, and 1 investigated Klotho levels in patients with autosomal dominant polycystic kidney disease. In conclusion, no study has addressed the comparison of these therapies in the context of their use with nutraceutical agents that raise the expression of Klotho.
Topics: Humans; Cross-Sectional Studies; Glucuronidase; Kidney; Proteinuria; Renal Insufficiency, Chronic; Klotho Proteins
PubMed: 37207706
DOI: 10.1016/j.labinv.2023.100178 -
International Journal of Cardiology Apr 2015Myotonic dystrophy (MD) is a multisystem, autosomal dominant disorder best known for its skeletal muscle manifestations. Cardiac manifestations arise as a result of... (Review)
Review
UNLABELLED
Myotonic dystrophy (MD) is a multisystem, autosomal dominant disorder best known for its skeletal muscle manifestations. Cardiac manifestations arise as a result of myocardial fatty infiltration, degeneration and fibrosis and present most commonly as arrhythmias or conduction disturbances. Guidelines regarding the optimal cardiac management of patients with MD are lacking. The present article provides a summary of the pathophysiology of cardiac problems in patients with MD and provides a practical approach to contemporary cardiac monitoring and management of these patients with a focus on the prevention of complications related to conduction disturbances and arrhythmias.
METHODS
A literature search was performed using PubMed and Medline. The keywords used in the search included "myotonic dystrophy", "cardiac manifestations", "heart", "arrhythmia", "pacemaker" and "defibrillator", all terms were used in combination. In addition, "myotonic dystrophy" was searched in conjunction with "electrophysiology", "electrocardiogram", "echocardiograph", "signal averaged electrocardiograph", "magnetic resonance imaging" and "exercise stress testing". The titles of all the articles revealed by the search were screened for relevance. The abstracts of relevant titles were read and those articles which concerned the cardiac manifestations of myotonic dystrophy or the investigation and management of cardiac manifestations underwent a full manuscript review.
Topics: Animals; Disease Management; Echocardiography; Electrocardiography; Heart Diseases; Humans; Myotonic Dystrophy
PubMed: 25769007
DOI: 10.1016/j.ijcard.2015.03.069