-
Zeitschrift Fur Rheumatologie Nov 2022The VEXAS syndrome is a recently identified autoinflammatory systemic disease. The acronym VEXAS stands for Vacuoles, E1 enzyme, X‑linked, Autoinflammatory, Somatic.... (Review)
Review
The VEXAS syndrome is a recently identified autoinflammatory systemic disease. The acronym VEXAS stands for Vacuoles, E1 enzyme, X‑linked, Autoinflammatory, Somatic. The disease is due to an acquired somatic mutation of the UBA1 gene, which encodes for the E‑1 enzyme, which in turn is responsible for the ubiquitination of proteins. Due to its location on the X chromosome, the disease predominantly affects men (in the second half of life). The patients present with a plethora of inflammatory clinical symptoms, often with overlap of hematologic, dermatologic, and rheumatologic syndromes. In particular, the presence of cytoplasmic vacuoles in the bone marrow is characteristic. In this article we report the clinical case of a VEXAS patient and give an overview of the pathophysiology, clinical symptoms and diagnostics of the disease.
Topics: Male; Humans; Syndrome; Mutation
PubMed: 35179640
DOI: 10.1007/s00393-022-01169-6 -
Developmental Medicine and Child... Mar 2021Sunflower syndrome is a rare photosensitive epilepsy which has received little attention in recent medical literature. The historical cases documenting the epilepsy's... (Review)
Review
Sunflower syndrome is a rare photosensitive epilepsy which has received little attention in recent medical literature. The historical cases documenting the epilepsy's stereotyped handwaving motion in front of light characterized the behavior as self-inducing seizures via mimic of stroboscopic effect. However, the relationship between handwaving episodes and attendant generalized electroencephalogram abnormalities, and an appreciation of the compulsive attraction the sun and other light sources hold for these patients, suggest the handwaving motion may be a part of the seizure rather than a mechanism of self-induction. The lack of awareness of Sunflower syndrome often leads to misdiagnosis. The seizures are often refractory to traditional anticonvulsant medication, and patients resort to behavioral intervention, such as hats and sunglasses, to reduce handwaving episodes. Further study is required to determine the syndrome's natural history and to identify more effective treatment options. WHAT THIS PAPER ADDS: Sunflower syndrome is a rare condition that is often misdiagnosed. Awareness of the clinical and electroencephalogram characteristics of Sunflower syndromemay reduce the prevalence of misdiagnosis.
Topics: Anticonvulsants; Epilepsy, Reflex; Humans; Photic Stimulation; Syndrome
PubMed: 33135153
DOI: 10.1111/dmcn.14723 -
Neurosurgery Clinics of North America Jan 2022Hydrocephalus, the abnormal accumulation and impaired circulation/clearance of cerebrospinal fluid, occurs as a common phenotypic feature of a diverse group of genetic... (Review)
Review
Hydrocephalus, the abnormal accumulation and impaired circulation/clearance of cerebrospinal fluid, occurs as a common phenotypic feature of a diverse group of genetic syndromes. In this review, we outline the genetic mutations, pathogenesis, and accompanying symptoms underlying syndromic hydrocephalus in the context of: L1 syndrome, syndromic craniosynostoses, achondroplasia, NF 1/2, Down's syndrome, tuberous sclerosis, Walker-Warburg syndrome, primary ciliary dyskinesia, and osteogenesis imperfecta. Further, we discuss emerging genetic variants associated with syndromic hydrocephalus.
Topics: Craniosynostoses; Humans; Hydrocephalus; Syndrome
PubMed: 34801143
DOI: 10.1016/j.nec.2021.09.006 -
United European Gastroenterology Journal Apr 2021The gut fermentation syndrome (GFS), also known as the endogenous alcohol fermentation syndrome or auto brewery syndrome, is a rare and underdiagnosed medical condition...
BACKGROUND
The gut fermentation syndrome (GFS), also known as the endogenous alcohol fermentation syndrome or auto brewery syndrome, is a rare and underdiagnosed medical condition where consumed carbohydrates are converted to alcohol by the microbiota in the gastrointestinal or urinary tract. The symptoms of GFS can have severe impact on patients' wellbeing and can have social and legal consequences. Unfortunately, not much is reported about GFS. The aim of this systematic review was to assess the evidence for GFS, causal micro-organisms, diagnostics, and possible treatments.
METHODS
A protocol was developed prior to initiation of the systematic review (PROSPERO 207182). We performed a literature search for clinical studies on 1 September 2020 using PubMed and Embase. We included all clinical studies, including case reports that described the GFS.
RESULTS
In total, 17 case reports were included, consisting of 20 patients diagnosed with GFS. The species that caused the GFS included Klebsiella pneumoniae, Candida albicans, C. glabrata, Saccharomyces cerevisiae, C. intermedia, C. parapsilosis, and C. kefyr.
CONCLUSIONS
GFS is a rare but underdiagnosed disease in daily practice. The disease is mostly reported by Saccharomyces and Candida genera, and some cases were previously treated with antibiotics. Studies in Nonalcoholic Fatty Liver disease suggest a bacterial origin of endogenous alcohol-production, which might also be causal micro-organisms in GFS. Current treatments for GFS include antibiotics, antifungal medication, low carbohydrate diet, and probiotics. There might be a potential role of fecal microbiota transplant in the treatment of GFS.
Topics: Anti-Bacterial Agents; Antifungal Agents; Bias; Candida; Diet, Carbohydrate-Restricted; Dietary Carbohydrates; Ethanol; Fecal Microbiota Transplantation; Fermentation; Gastrointestinal Microbiome; Humans; Klebsiella pneumoniae; Medical Records; Non-alcoholic Fatty Liver Disease; Probiotics; Saccharomyces cerevisiae; Syndrome
PubMed: 33887125
DOI: 10.1002/ueg2.12062 -
Medicina (Kaunas, Lithuania) Jan 2021Mast cell disorders comprise a wide spectrum of syndromes caused by mast cells' degranulation with acute or chronic clinical manifestations. In this review article we... (Review)
Review
Mast cell disorders comprise a wide spectrum of syndromes caused by mast cells' degranulation with acute or chronic clinical manifestations. In this review article we reviewed the latest findings in scientific papers about mast cell disorders with a particular focus on mast cell activation syndrome and mastocytosis in pediatric age. Patients with mast cell activation syndrome have a normal number of mast cells that are hyperreactive upon stimulation of various triggers. We tried to emphasize the diagnostic criteria, differential diagnosis, and therapeutic strategies. Another primary mast cell disorder is mastocytosis, a condition with a long-known disease, in which patients have an increased number of mast cells that accumulate in different regions of the body with different clinical evolution in pediatric age. Mast cell activation syndrome overlaps with different clinical entities. No consensus was found on biomarkers and no clearly resolutive treatment is available. Therefore, a more detailed knowledge of this syndrome is of fundamental importance for a correct diagnosis and effective therapy.
Topics: Biomarkers; Child; Diagnosis, Differential; Humans; Mast Cells; Mastocytosis; Syndrome
PubMed: 33573161
DOI: 10.3390/medicina57020124 -
Acta Ophthalmologica Dec 2020In the era of precision medicine, genomic characterization of blind patients is critical. Here, we evaluate the effects of comprehensive genetic analysis on the...
PURPOSE
In the era of precision medicine, genomic characterization of blind patients is critical. Here, we evaluate the effects of comprehensive genetic analysis on the etiologic diagnosis of potentially hereditary vision loss and its impact on clinical management.
METHODS
We studied 100 non-syndromic and syndromic Spanish patients with a clinical diagnosis of blindness caused by alterations on the retina, choroid, vitreous and/or optic nerve. We used a next-generation sequencing (NGS) panel (OFTALMOgenics™), developed and validated within this study, including up to 362 genes previously associated with these conditions.
RESULTS
We identified the genetic cause of blindness in 45% of patients (45/100). A total of 28.9% of genetically diagnosed cases (13/45) were syndromic and, of those, in 30.8% (4/13) extraophthalmic features had been overlooked and/or not related to visual impairment before genetic testing, including cases with Mainzer-Saldino, Bardet-Biedl, mucolipidosis and MLCRD syndromes. In two additional cases-syndromic blindness had been proposed before, but not specifically diagnosed, and one patient with Heimler syndrome had been misdiagnosed as an Usher case before testing. 33.3% of the genetically diagnosed patients (15/45) had causative variants in genes targeted by clinical trials exploring the curative potential of gene therapy approaches.
CONCLUSION
Comprehensive genomic testing provided clinically relevant insights in a large proportion of blind patients, identifying potential therapeutic opportunities or previously undiagnosed syndromes in 42.2% of the genetically diagnosed cases (19/45).
Topics: Disease Management; Genetic Testing; Genomics; High-Throughput Nucleotide Sequencing; Humans; Optic Nerve Diseases; Pedigree; Phenotype; Retinal Diseases; Syndrome
PubMed: 32483926
DOI: 10.1111/aos.14479 -
Clinical Microbiology Reviews Mar 2021The family has undergone significant morphogenetic changes in its more than 85-year history, particularly during the past 2 decades (2000 to 2020). The development and... (Review)
Review
The family has undergone significant morphogenetic changes in its more than 85-year history, particularly during the past 2 decades (2000 to 2020). The development and introduction of new and novel molecular methods coupled with innovative laboratory techniques have led to many advances. We now know that the global range of enterobacteria is much more expansive than previously recognized, as they play important roles in the environment in vegetative processes and through widespread environmental distribution through insect vectors. In humans, many new species have been described, some associated with specific disease processes. Some established species are now observed in new infectious disease settings and syndromes. The results of molecular taxonomic and phylogenetics studies suggest that the current family should possibly be divided into seven or more separate families. The logarithmic explosion in the number of enterobacterial species described brings into question the relevancy, need, and mechanisms to potentially identify these taxa. This review covers the progression, transformation, and morphogenesis of the family from the seminal Centers for Disease Control and Prevention publication (J. J. Farmer III, B. R. Davis, F. W. Hickman-Brenner, A. McWhorter, et al., J Clin Microbiol 21:46-76, 1985, https://doi.org/10.1128/JCM.21.1.46-76.1985) to the present.
Topics: Enterobacteriaceae; Humans; Phylogeny; Syndrome
PubMed: 33627443
DOI: 10.1128/CMR.00174-20 -
Ugeskrift For Laeger May 2019This review presents the newest classification of dystonia, new evidence regarding aetiology, the diagnosis of dystonia, and the most common forms of treatment. Dystonia... (Review)
Review
This review presents the newest classification of dystonia, new evidence regarding aetiology, the diagnosis of dystonia, and the most common forms of treatment. Dystonia is a rare and heterogeneous movement disorder defined as a syn-drome of sustained muscle contractions with twisting and abnormal postures, and tremor. Dystonia is a collective term for different syndromes, primary idiopathic forms as well as genetic and secondary forms.
Topics: Dystonia; Humans; Syndrome; Tremor
PubMed: 31124448
DOI: No ID Found -
Rhode Island Medical Journal (2013) Jul 2023
Topics: Humans; Syndrome
PubMed: 37368837
DOI: No ID Found -
BioMed Research International 2014Many advances in dermatology have been made in recent years. In the present review article, newly described disorders from the last six years are presented in detail. We... (Review)
Review
Many advances in dermatology have been made in recent years. In the present review article, newly described disorders from the last six years are presented in detail. We divided these reports into different sections, including syndromes, autoinflammatory diseases, tumors, and unclassified disease. Syndromes included are "circumferential skin creases Kunze type" and "unusual type of pachyonychia congenita or a new syndrome"; autoinflammatory diseases include "chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome," "pyoderma gangrenosum, acne, and hidradenitis suppurativa (PASH) syndrome," and "pyogenic arthritis, pyoderma gangrenosum, acne, and hidradenitis suppurativa (PAPASH) syndrome"; tumors include "acquired reactive digital fibroma," "onychocytic matricoma and onychocytic carcinoma," "infundibulocystic nail bed squamous cell carcinoma," and "acral histiocytic nodules"; unclassified disorders include "saurian papulosis," "symmetrical acrokeratoderma," "confetti-like macular atrophy," and "skin spicules," "erythema papulosa semicircularis recidivans."
Topics: Autoimmune Diseases; Humans; Skin Diseases; Skin Neoplasms; Syndrome
PubMed: 25243162
DOI: 10.1155/2014/616973