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Neurology India 2019
Topics: Brain; Female; Humans; Magnetic Resonance Imaging; Retinal Artery Occlusion; Susac Syndrome; Young Adult
PubMed: 31512675
DOI: 10.4103/0028-3886.266278 -
Cirugia Espanola Mar 2023
Topics: Humans; Female; Breast Neoplasms; Breast; Poland Syndrome
PubMed: 36100049
DOI: 10.1016/j.cireng.2022.09.019 -
Biomedicines Jun 2023Mucopolysaccharidosis type II (MPS II; also known as Hunter syndrome) is a rare, inherited lysosomal storage disease. The disease is caused by deficiency of the... (Review)
Review
Mucopolysaccharidosis type II (MPS II; also known as Hunter syndrome) is a rare, inherited lysosomal storage disease. The disease is caused by deficiency of the lysosomal enzyme iduronate-2-sulphatase (I2S) due to mutations in the gene, which leads to accumulation of glycosaminoglycans (GAGs). Deficiency of I2S enzyme activity in patients with MPS II leads to progressive lysosomal storage of GAGs in the liver, spleen, heart, bones, joints, and respiratory tract. This process disturbs cellular functioning and leads to multisystemic disease manifestations. Symptoms and their time of onset differ among patients. Diagnosis of MPS II involves assessment of clinical features, biochemical parameters, and molecular characteristics. Life-long enzyme replacement therapy with idursulfase (recombinant human I2S) is the current standard of care. However, an interdisciplinary team of specialists is required to monitor and assess the patient's condition to ensure optimal care. An increasing number of patients with this rare disease reach adulthood and old age. The transition from pediatric care to the adult healthcare system should be planned and carried out according to guidelines to ensure maximum benefit for the patient.
PubMed: 37371763
DOI: 10.3390/biomedicines11061668 -
Endokrynologia Polska 2023Not required for Clinical Vignette.
Not required for Clinical Vignette.
Topics: Humans; Hypoglycemia; Autoimmune Diseases; Insulins; Insulin
PubMed: 37994588
DOI: 10.5603/ep.95669 -
Przeglad Gastroenterologiczny 2021Benign pancreatic hyperenzymemia (Gullo's syndrome) is characterized by a more than threefold increase of the serum pancreatic enzymes lipase and amylase activity in the... (Review)
Review
Benign pancreatic hyperenzymemia (Gullo's syndrome) is characterized by a more than threefold increase of the serum pancreatic enzymes lipase and amylase activity in the absence of any pancreatic disease. Recently, there is an increase in describing cases of Gullo's syndrome in medical literature. Gullo's syndrome is a diagnosis of exclusion, and clinicians should be aware of various other conditions which can cause elevation of pancreatic enzymes. However, the diagnostic pathway should be done with the right accuracy to avoid unnecessary examinations.
PubMed: 34584577
DOI: 10.5114/pg.2020.101133 -
Frontiers in Physiology 2019People over 65 years of age constitute over 80% of patients with heart failure (HF) and the incidence of HF is 10 per 1,000 in people aged above 65 years. Approximately... (Review)
Review
People over 65 years of age constitute over 80% of patients with heart failure (HF) and the incidence of HF is 10 per 1,000 in people aged above 65 years. Approximately 25% of older patients with HF exhibit evidence of frailty. Frail patients with cardiovascular disease (CVD) have a worse prognosis than non-frail patients, and frailty is an independent risk factor for incident HF among older people. Planning the treatment of individuals with HF and concomitant frailty, one should consider not only the limitations imposed by frailty syndrome (FS) but also those associated with the underlying heart disease. It needs to be emphasized that all patients with HF and concomitant FS require individualized treatment.
PubMed: 31333480
DOI: 10.3389/fphys.2019.00791 -
The Pan African Medical Journal 2021
PubMed: 33912280
DOI: 10.11604/pamj.2021.38.110.27384 -
Journal of Psychiatry & Neuroscience :... 2023Tourette syndrome is a developmental neuropsychiatric disorder. Its etiology is complex and elusive, although an important role of genetic factors has been established....
BACKGROUND
Tourette syndrome is a developmental neuropsychiatric disorder. Its etiology is complex and elusive, although an important role of genetic factors has been established. The aim of the present study was to identify the genomic basis of Tourette syndrome in a group of families with affected members in 2 or 3 generations.
METHODS
Whole-genome sequencing was performed followed by co-segregation and bioinformatic analyses. Identified variants were used to select candidate genes, which were then subjected to gene ontology and pathway enrichment analysis.
RESULTS
The study group included 17 families comprising 80 patients with Tourette syndrome and 44 healthy family members. Co-segregation analysis and subsequent prioritization of variants pinpointed 37 rare and possibly pathogenic variants shared among affected individuals within a single family. Three such variants, in the , and genes, could influence oxidoreductase activity in the brain. Two variants, in and genes, were involved in sensory processing of sound by inner hair cells of the cochlea. Enrichment analysis of genes whose rare variants were present in all patients from at least 2 families identified significant gene sets implicated in cell-cell adhesion, cell junction assembly and organization, processing of sound, synapse assembly, and synaptic signalling processes.
LIMITATIONS
We did not examine intergenic variants, but they still could influence clinical phenotype.
CONCLUSION
Our results provide a further argument for a role of adhesion molecules and synaptic transmission in neuropsychiatric diseases. Moreover, an involvement of processes related to oxidative stress response and sound-sensing in the pathology of Tourette syndrome seems likely.
Topics: Humans; Tourette Syndrome; Phenotype; Synaptic Transmission; Brain; Genomics; Aldehyde Dehydrogenase, Mitochondrial
PubMed: 37208127
DOI: 10.1503/jpn.220206 -
Cardiology Journal 2021
Topics: COVID-19; Europe; Heart Diseases; Humans; Pandemics; SARS-CoV-2; Syndrome
PubMed: 33645626
DOI: 10.5603/CJ.a2021.0028 -
Orphanet Journal of Rare Diseases Aug 2020Poland syndrome (OMIM: 173800) is a disorder in which affected individuals are born with missing or underdeveloped muscles on one side of the body, resulting in... (Review)
Review
BACKGROUND
Poland syndrome (OMIM: 173800) is a disorder in which affected individuals are born with missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, breast, shoulder, arm, and hand. The extent and severity of the abnormalities vary among affected individuals.
MAIN BODY
The aim of this work is to provide recommendations for the diagnosis and management of people affected by Poland syndrome based on evidence from literature and experience of health professionals from different medical backgrounds who have followed for several years affected subjects. The literature search was performed in the second half of 2019. Original papers, meta-analyses, reviews, books and guidelines were reviewed and final recommendations were reached by consensus.
CONCLUSION
Being Poland syndrome a rare syndrome most recommendations here presented are good clinical practice based on the consensus of the participant experts.
Topics: Consensus; Health Personnel; Humans; Poland Syndrome
PubMed: 32758259
DOI: 10.1186/s13023-020-01481-x