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Polish Archives of Internal Medicine Jun 2021
Topics: Cross-Sectional Studies; Humans; Metabolic Syndrome; Poland; Risk Factors
PubMed: 34184853
DOI: 10.20452/pamw.16040 -
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 -
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 -
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 -
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 -
Cardiology Journal 2021
Topics: COVID-19; Europe; Heart Diseases; Humans; Pandemics; SARS-CoV-2; Syndrome
PubMed: 33645626
DOI: 10.5603/CJ.a2021.0028 -
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 -
Genes Apr 2023(kinesin family member 1A)-related disorders encompass a variety of diseases. variants are responsible for autosomal recessive and dominant spastic paraplegia 30 (SPG,...
BACKGROUND
(kinesin family member 1A)-related disorders encompass a variety of diseases. variants are responsible for autosomal recessive and dominant spastic paraplegia 30 (SPG, OMIM610357), autosomal recessive hereditary sensory and autonomic neuropathy type 2 (HSN2C, OMIM614213), and autosomal dominant neurodegeneration and spasticity with or without cerebellar atrophy or cortical visual impairment (NESCAV syndrome), formerly named mental retardation type 9 (MRD9) (OMIM614255). variants have also been occasionally linked with progressive encephalopathy with brain atrophy, progressive neurodegeneration, PEHO-like syndrome (progressive encephalopathy with edema, hypsarrhythmia, optic atrophy), and Rett-like syndrome.
MATERIALS AND METHODS
The first Polish patients with confirmed heterozygous pathogenic and potentially pathogenic variants were analyzed. All the patients were of Caucasian origin. Five patients were females, and four were males (female-to-male ratio = 1.25). The age of onset of the disease ranged from 6 weeks to 2 years.
RESULTS
Exome sequencing identified three novel variants. Variant c.442G>A was described in the ClinVar database as likely pathogenic. The other two novel variants, c.609G>C; p.(Arg203Ser) and c.218T>G, p.(Val73Gly), were not recorded in ClinVar.
CONCLUSIONS
The authors underlined the difficulties in classifying particular syndromes due to non-specific and overlapping signs and symptoms, sometimes observed only temporarily.
Topics: Humans; Male; Female; Infant; Poland; Kinesins; Spastic Paraplegia, Hereditary; Atrophy; Spasms, Infantile; Neurodegenerative Diseases
PubMed: 37239332
DOI: 10.3390/genes14050972