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Clinical Anatomy (New York, N.Y.) Jul 2016Cri du chat syndrome is an autosomal disorder. Because it affects few people in the population it is considered a rare disease, yet it is one of the most common... (Review)
Review
Cri du chat syndrome is an autosomal disorder. Because it affects few people in the population it is considered a rare disease, yet it is one of the most common autosomal chromosomal syndromes in humans. It entails pathognomonic alterations that affect the craniofacial and oral anatomy of patients. The aim of this study is to review these craniofacial and oral abnormalities in patients with Cri du chat syndrome. The PubMed Medline database was searched using two different strategies. First, we used "Dentistry" and "Cri du chat" as keywords; second, we used "Cri du chat" and "craniofacial." Seven articles in which the main orofacial and cranio-skeletal characteristics of patients with Cri du chat syndrome were described were selected according to the inclusion and exclusion criteria. Cri du Chat syndrome entails pathognomonic characteristics in the craniofacial area (epicanthus, short philtrum, and wide nasal bridge), the oral area (mandibular retrognathism and anterior open bite) and the cranial region (alterations at the cranial base angle and a small upper airway). However, more studies on larger samples are needed to specify the orofacial and craniofacial characteristics of patients with Cri du chat syndrome more accurately. Clin. Anat. 29:555-560, 2016. © 2015 Wiley Periodicals, Inc.
Topics: Craniofacial Abnormalities; Cri-du-Chat Syndrome; Humans; Mouth; Skull
PubMed: 26457586
DOI: 10.1002/ca.22654 -
International Journal of Environmental... Feb 2022Ehlers-Danlos syndrome type arthrochalasia (aEDS) is a rare genetic disease characterized by severe generalized joint hypermobility, bilateral congenital hip... (Review)
Review
Ehlers-Danlos syndrome type arthrochalasia (aEDS) is a rare genetic disease characterized by severe generalized joint hypermobility, bilateral congenital hip dislocation, skin hyperextensibility, muscle hypotonia, and mild dysmorphic features. It is an autosomal dominant connective tissue disease causing defects in collagen, associated with two genes, COL1A1 or COL1A2. Only about 42 cases have been published worldwide. Treatment is currently symptomatic and focuses on increasing the quality of life of these patients, as there is no curative treatment. The main objective of the review was to update information on Ehlers-Danlos syndrome type arthrochalasia from scientific publications. The review report was carried out in accordance with the criteria of the Preferred Reporting Items for Systematic reviews and MetaAnalyses (PRISMA) review protocol, by searching Orphanet, OMIM, PubMed, and Scopus, as well as free sources. A total of 20 articles were analyzed, which, after analysis, provide an updated report that aims to establish a solid starting point for future lines of research.
Topics: Collagen; Ehlers-Danlos Syndrome; Humans; Joint Instability; Quality of Life; Skin Abnormalities
PubMed: 35162892
DOI: 10.3390/ijerph19031870 -
Pediatric Allergy and Immunology :... May 2017We aimed to establish the prevalence of parental consanguinity among patients with primary immunodeficiency diseases (PID) and compare the prevalence with the general... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
We aimed to establish the prevalence of parental consanguinity among patients with primary immunodeficiency diseases (PID) and compare the prevalence with the general population.
METHOD
We searched PubMed, EMBASE, and Scopus for studies mentioning parental consanguinity prevalence in patients with PID and calculated the prevalence odds ratio (POR) of parental consanguinity in each study, compared to a matched healthy population.
RESULTS
We identified 21 eligible studies with a total population of 18091 accounting for sample overlap. The POR among studies on a sample of mixed patients with PID ranged from 0.6 to 21.9 with the pooled POR of 3.0 (p < 0.001; I = 89%, 95% CI: 2.5-3.7).
CONCLUSION
PIDs with an autosomal recessive pattern of inheritance had significant odds of parental consanguinity compared to the healthy population, a phenomenon not observed in other inheritance patterns. Determining the extent of the impact that consanguinity imposes upon the progeny paves the way for convincing healthcare policymakers in highly consanguineous communities to act more diligently in informing the masses about the consequences of practicing inbreeding.
Topics: Child; Child, Preschool; Consanguinity; Female; Humans; Immunologic Deficiency Syndromes; Infant; Male; Odds Ratio; Parents; Prevalence
PubMed: 27893166
DOI: 10.1111/pai.12685 -
Nefrologia 2023The irreversible progression of autosomal dominant polycystic kidney disease (ADPKD) to end-stage renal disease (ESRD) is delayed by tolvaptan. Therefore, we aim to... (Meta-Analysis)
Meta-Analysis
BACKGROUND
The irreversible progression of autosomal dominant polycystic kidney disease (ADPKD) to end-stage renal disease (ESRD) is delayed by tolvaptan. Therefore, we aim to systematically estimate and evaluate the efficacy and safety of tolvaptan in the treatment of ADPKD.
METHODS
Two reviewers independently searched all published randomized controlled trials studies in PubMed, EMBASE, Web of Science and Cochrane databases, extracted data, assessed bias risk and rated the quality of evidence. Data were analyzed by the RevMan software.
RESULTS
We identified 8 trials including 2135 patients. Both of the decline of estimated glomerular filtration rate (eGFR) [MD=1.89, 95% CI (0.74, 3.04), P=0.001] and total kidney volume (TKV) [MD=-3.32, 95% CI (-4.57, -2.07), P<0.001] were delayed in tolvaptan group compared with placebo group in ADPKD patients. The use of tolvaptan delayed TKV progression in the different-month subgroups [MD=-69.99, 95% CI (-91.05, -48.94), P<0.001]. Tolvaptan reduced renal pain [RR=0.66, 95% CI (0.54, 0.81), P<0.001] and hematuria events [RR=0.55, 95% CI (0.41, 0.74), P<0.001] in ADPKD patients. However, the prevalence of thirst [RR=2.75, 95% CI (2.34, 3.24), P<0.001] and nocturia events [RR=3.01, 95% CI (1.27, 7.11), P=0.01] were increased in tolvaptan group. There is no significant difference of hypertension events [RR=0.92, 95% CI (0.82, 1.03), P=0.13] in tolvaptan group compared placebo group.
CONCLUSIONS
This meta-analysis suggests that tolvaptan may improve clinical progression in patients with ADPKD without significantly increasing the risk of adverse reactions.
Topics: Humans; Tolvaptan; Polycystic Kidney, Autosomal Dominant; Antidiuretic Hormone Receptor Antagonists; Benzazepines; Kidney
PubMed: 37150675
DOI: 10.1016/j.nefroe.2023.04.002 -
Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.Journal of Neurology Aug 2017Charcot-Marie-Tooth disease (CMT) is the most frequent form of inherited neuropathy with great variety of phenotypes, inheritance patterns, and causative genes.... (Review)
Review
Charcot-Marie-Tooth disease (CMT) is the most frequent form of inherited neuropathy with great variety of phenotypes, inheritance patterns, and causative genes. According to median motor nerve conduction velocity (MNCV), CMT is divided into demyelinating (CMT1) with MNCV below 38 m/s, axonal (CMT2) with MNCV above 38 m/s, and intermediate CMT with MNCV between 25 and 45 m/s. In each category, transmission may be autosomal dominant, autosomal recessive, or X-linked. The nosology of intermediate CMT is controversial because of concerns about electrophysiological delimitation. A systematic computer-based literature search was conducted on PubMed, using the following MeSH: (1) intermediate Charcot-Marie-Tooth; (2) X-linked intermediate Charcot-Marie-Tooth; and (3) X-linked Charcot-Marie-Tooth and electrophysiology. We retrieved 225 articles reporting X-linked CMT or intermediate CMT with electrophysiological information. After eligibility, 156 papers were used for this review. In assessing median MNCV, compound muscle action potential (CMAP) amplitudes were taken into account. In cases with attenuated CMAP and wherever possible, proximal median MNCV was used for accurate definition of conduction slowing in the intermediate range. In the vast majority of males with X-linked CMT associated with GJB1 mutation (CMTX1), median MNCV was intermediate. CMT associated with DRP2 mutation is another well-documented X-linked intermediate disorder. Autosomal dominant intermediate CMT (DI-CMT) encompasses 11 different types; six of them with assigned phenotype MIM number and the remaining five being unnumbered. Based on available electrophysiological information, we wonder if DI-CMTA should be reclassified within CMT2. Autosomal recessive intermediate CMT (RI-CMT) covers four numbered MIM phenotypes though, in accordance with reported electrophysiology, two of them (RI-CMTB and RI-CMTD) should probably be reclassified within AR-CMT2. We conclude that intermediate CMT is a complex inherited syndrome, whose characterization requires a specific electrophysiological protocol comprising evaluation of upper limb proximal nerve trunks when distal CMAP amplitudes are reduced, and that an updated version of MIM phenotype numbering is needed.
Topics: Animals; Charcot-Marie-Tooth Disease; Humans; Median Nerve; Neural Conduction
PubMed: 28364294
DOI: 10.1007/s00415-017-8474-3 -
Andrologia Feb 2022Reciprocal translocation and Robertsonian translocation are known to be causative factors of male infertility. However, the association between autosomal reciprocal...
Reciprocal translocation and Robertsonian translocation are known to be causative factors of male infertility. However, the association between autosomal reciprocal translocation, Robertsonian translocation and semen parameters remains controversial. We performed a retrospective study and systematic review to investigate semen parameters in patients with autosomal reciprocal translocation or Robertsonian translocation. We recruited a total of 1,033 controls, 723 reciprocal translocation carriers and 326 Robertsonian translocation carriers. Men in the control, reciprocal translocation and Robertsonian translocation groups had a median age of 32.0 (95% CI, 32.0-33.0), 32.0 (95% CI, 32.0-33.0) and 33.0 (95% CI, 32.0-33.0) years respectively. Results showed that sperm concentration, total number per ejaculate, total motility, progressive motility of autosomal reciprocal translocation and Robertsonian translocation carriers were statistically lower than controls (p < .001). Eleven studies featuring 794 patients were enrolled in this systematic review. Compared with controls, autosomal reciprocal translocation and Robertsonian translocation carriers showed lower sperm concentration, total motility, progressive motility and normal morphology. Our results support the conclusion that sperm concentration, total number per ejaculate, total motility and progressive motility are significantly lower in autosomal reciprocal translocation and Robertsonian translocation carriers than in controls.
Topics: Humans; Infertility, Male; Male; Retrospective Studies; Semen; Sperm Count; Spermatozoa; Translocation, Genetic
PubMed: 34599520
DOI: 10.1111/and.14262 -
Neurology Jul 2014To identify factors influencing age at symptom onset and disease course in autosomal dominant Alzheimer disease (ADAD), and develop evidence-based criteria for... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
To identify factors influencing age at symptom onset and disease course in autosomal dominant Alzheimer disease (ADAD), and develop evidence-based criteria for predicting symptom onset in ADAD.
METHODS
We have collected individual-level data on ages at symptom onset and death from 387 ADAD pedigrees, compiled from 137 peer-reviewed publications, the Dominantly Inherited Alzheimer Network (DIAN) database, and 2 large kindreds of Colombian (PSEN1 E280A) and Volga German (PSEN2 N141I) ancestry. Our combined dataset includes 3,275 individuals, of whom 1,307 were affected by ADAD with known age at symptom onset. We assessed the relative contributions of several factors in influencing age at onset, including parental age at onset, age at onset by mutation type and family, and APOE genotype and sex. We additionally performed survival analysis using data on symptom onset collected from 183 ADAD mutation carriers followed longitudinally in the DIAN Study.
RESULTS
We report summary statistics on age at onset and disease course for 174 ADAD mutations, and discover strong and highly significant (p < 10(-16), r2 > 0.38) correlations between individual age at symptom onset and predicted values based on parental age at onset and mean ages at onset by mutation type and family, which persist after controlling for APOE genotype and sex.
CONCLUSIONS
Significant proportions of the observed variance in age at symptom onset in ADAD can be explained by family history and mutation type, providing empirical support for use of these data to estimate onset in clinical research.
Topics: Age of Onset; Alzheimer Disease; Chromosome Disorders; Genes, Dominant; Humans
PubMed: 24928124
DOI: 10.1212/WNL.0000000000000596 -
Annals of Vascular Surgery Jan 2013Whether abdominal aortic aneurysm (AAA) forms part of the extrarenal manifestations of autosomal-dominant polycystic kidney disease (ADPKD) is unclear. We set out to... (Review)
Review
BACKGROUND
Whether abdominal aortic aneurysm (AAA) forms part of the extrarenal manifestations of autosomal-dominant polycystic kidney disease (ADPKD) is unclear. We set out to review the evidence for an association.
MATERIALS AND METHODS
PubMed, Medline, Embase, and Web of Science databases 1960-2011 were searched [abdominal aortic aneurysm OR AAA OR triple A] AND [polycystic kidney disease OR PKD OR ADPKD OR Renal Cysts]. No limitations were placed on article type or language. Reference lists were recursively searched as were pertinent journal contents.
RESULTS
Eighteen papers were included. Since the first documented case of ADPKD and AAA in 1980, there have been 23 case reports. The voluminous kidneys make AAA diagnosis challenging and surgical exposure difficult. Two studies have assessed aortic diameter in patients with ADPKD and controls, one finding increased aortic diameter in ADPKD (2.7 cm vs. 2.3 cm, P < 0.02) and the other finding no difference. A further study identified a higher incidence of renal cysts in patients with AAA compared to controls (54% vs. 30%, P = 0.0006).
CONCLUSION
There is not enough clinical evidence to determine if ADPKD and AAA share a common pathology. Larger multicenter trials are required to determine if a link exists.
Topics: Aortic Aneurysm, Abdominal; Humans; Incidence; Middle Aged; Polycystic Kidney Diseases; Prognosis; Risk Factors
PubMed: 23088808
DOI: 10.1016/j.avsg.2012.05.013 -
Frontiers in Genetics 2021Mutations in the STRC (MIM 606440) gene, inducing DFNB16, are considered a major cause of mild-moderate autosomal recessive non-syndromic hearing loss (ARNSHL). We...
Mutations in the STRC (MIM 606440) gene, inducing DFNB16, are considered a major cause of mild-moderate autosomal recessive non-syndromic hearing loss (ARNSHL). We conducted a systematic review and meta-analysis to determine the global prevalence and characteristics of STRC variations, important information required for genetic counseling. PubMed, Google Scholar, Medline, Embase, and Web of Science were searched for relevant articles published before January 2021. The pooled prevalence of DFNB16 in GJB2-negative patients with hearing loss was 4.08% (95% CI: 0.0289-0.0573), and the proportion of STRC variants in the mild-moderate hearing loss group was 14.36%. Monoallelic mutations of STRC were 4.84% (95% CI: 0.0343-0.0680) in patients with deafness (non-GJB2) and 1.36% (95% CI: 0.0025-0.0696) in people with normal hearing. The DFNB16 prevalence in genetically confirmed patients (non-GJB2) was 11.10% (95% CI: 0.0716-0.1682). Overall pooled prevalence of deafness-infertility syndrome (DIS) was 36.75% (95% CI: 0.2122-0.5563) in DFNB16. The prevalence of biallelic deletions in STRC gene mutations was 70.85% (95% CI: 0.5824-0.8213). Variants in the STRC gene significantly contribute to mild-moderate hearing impairment. Moreover, biallelic deletions are a main feature of STRC mutations. Copy number variations associated with infertility should be seriously considered when investigating DFNB16.
PubMed: 34621290
DOI: 10.3389/fgene.2021.707845 -
Brain and Behavior Jun 2023Primary generalized dystonia due to the DYT1 gene is an autosomal dominant disorder caused by a GAG deletion on chromosome 9q34. It is a well-defined, genetically... (Review)
Review
BACKGROUND
Primary generalized dystonia due to the DYT1 gene is an autosomal dominant disorder caused by a GAG deletion on chromosome 9q34. It is a well-defined, genetically proven, isolated dystonia syndrome. However, its pathophysiology remains unclear.
OBJECTIVES
This study was aimed at profiling the functional neuroimaging findings in DYT1 dystonia and harmonizing the pathophysiological implications for DYT1 dystonia from the standpoint of different neuroimaging techniques.
METHODS
A systematic review was conducted using identified studies published in English from Medline, PsycINFO, Embase, CINAHL, and the Cochrane Database of Systematic Reviews (CDSR), between 1985 and December 2019 (PROSPERO protocol CRD42018111211).
RESULTS
All DYT1 gene carriers irrespective of clinical penetrance have reduced striatal GABA, dopamine receptors and increased metabolic activity in the lentiform nucleus, supplementary motor area, and cerebellum in addition to an abnormal cerebellothalamocortical pathway. Nonmanifesting carriers on the other hand have a disruption of the distal (thalamocortical) segment and have larger putaminal volumes than manifesting carriers and healthy controls. Activation of the midbrain, thalamus, and sensorimotor cortex was only found in the manifesting carriers.
CONCLUSIONS
Therefore, we propose that DYT1 dystonia is a cerebellostriatothalamocortical network disorder affecting either the structure or function of the different structures or nodes in the network.
Topics: Humans; Dystonia; Dystonic Disorders; Molecular Chaperones; Neuroimaging
PubMed: 37165749
DOI: 10.1002/brb3.3023