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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 -
Cureus Aug 2020A 36-year-old man presented with incidental findings of an asymmetric chest with hypoplastic and flattened left anterior chest wall due to absent left pectoralis major....
A 36-year-old man presented with incidental findings of an asymmetric chest with hypoplastic and flattened left anterior chest wall due to absent left pectoralis major. He also had short and webbed fingers in the left hand. These deformities were present since birth. Chest X-ray showed hyperlucency on the left side. Computerized tomography (CT) scan showed an absence of the left pectoralis major. X-ray of the left hand showed hypoplasia of the proximal phalanx and aplasia of the middle and distal phalanges of the second digit, and aplasia of the middle phalanges of the third and fourth digits. A diagnosis of left-sided Poland syndrome with associated ipsilateral brachysyndactyly, which is a very rare entity, was made. The patient opted against any reconstructive procedure as he had a minimal functional limitation.
PubMed: 32944470
DOI: 10.7759/cureus.9755 -
The Pan African Medical Journal 2021
PubMed: 33912280
DOI: 10.11604/pamj.2021.38.110.27384 -
The Pan African Medical Journal 2015
Topics: Abnormalities, Multiple; Child, Preschool; Humans; Male; Poland Syndrome
PubMed: 26889305
DOI: 10.11604/pamj.2015.22.124.7972 -
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 -
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 -
BMC Pediatrics Dec 2022Möbius (Moebius) and Poland's syndromes are two rare congenital syndromes characterized by non-progressive bilateral (and often asymmetric) dysfunction of the 6 and 7... (Review)
Review
BACKGROUND
Möbius (Moebius) and Poland's syndromes are two rare congenital syndromes characterized by non-progressive bilateral (and often asymmetric) dysfunction of the 6 and 7 cranial nerves and hypoplasia of the pectoral muscles associated with chest wall and upper limb anomalies respectively. Manifest simultaneously as Poland-Möbius (Poland-Moebius) syndrome, debate continues as to whether this is a distinct nosological entity or represents phenotypic variation as part of a spectrum of disorders of rhomboencephalic development. Etiological hypotheses implicate both genetic and environmental factors. The PLXND1 gene codes for a protein expressed in the fetal central nervous system and vascular endothelium and is thus involved in embryonic neurogenesis and vasculogenesis. It is located at chromosome region 3q21-q22, a locus of interest for Möbius syndrome.
CASE PRESENTATION
We present the first report of a patient with Poland-Möbius syndrome and a mutation in the PLXND1 gene. A child with Poland-Möbius syndrome and a maternally inherited missense variant (NM_015103.2:ex14:c.2890G > Ap.V964M) in the PLXND1 gene is described. In order to contextualize these findings, the literature was examined to identify other confirmed cases of Poland-Möbius syndrome for which genetic data were available. Fourteen additional cases of Poland-Möbius syndrome with genetic studies are described in the literature. None implicated the PLXND1 gene which has previously been implicated in isolated Möbius syndrome.
CONCLUSIONS
This report provides further evidence in support of a role for PLXND1 mutations in Möbius syndrome and reasserts the nosological link between Möbius and Poland's syndromes.
LEVEL OF EVIDENCE
Level V, Descriptive Study.
Topics: Child; Humans; Mobius Syndrome; Poland Syndrome; Mutation; Thoracic Wall; Central Nervous System
PubMed: 36581828
DOI: 10.1186/s12887-022-03803-3 -
Journal of Medical Genetics Aug 1981A patient with stigmata of both the Möbius syndrome and the Poland syndrome is presented. This is now the twelfth well-documented patient with a combination of the two... (Review)
Review
A patient with stigmata of both the Möbius syndrome and the Poland syndrome is presented. This is now the twelfth well-documented patient with a combination of the two syndromes. The association of the Poland syndrome and the Möbius syndrome occurs with sufficient frequency that the combination probably represents a formal genesis malformation syndrome of unknown aetiology that should be designated the Poland-Möbius syndrome.
Topics: Abnormalities, Multiple; Adolescent; Facial Paralysis; Humans; Male; Pectoralis Muscles; Syndrome; Terminology as Topic
PubMed: 7024548
DOI: 10.1136/jmg.18.4.317 -
Translational Pediatrics Apr 2021Poland's syndrome (PS) is a rare musculoskeletal congenital anomaly with a wide spectrum of presentations. It is typically characterized by hypoplasia or aplasia of... (Review)
Review
Poland's syndrome (PS) is a rare musculoskeletal congenital anomaly with a wide spectrum of presentations. It is typically characterized by hypoplasia or aplasia of pectoral muscles, mammary hypoplasia and variably associated ipsilateral limb anomalies. Limb defects can vary in severity, ranging from syndactyly to phocomelia. Most cases are sporadic but familial cases with intrafamilial variability have been reported. Several theories have been proposed regarding the genesis of PS. Vascular disruption theory, "the subclavian artery supply disruption sequence" (SASDS) remains the most accepted pathogenic mechanism. Clinical presentations can vary in severity from syndactyly to phocomelia in the limbs and in the thorax, rib defects to severe chest wall anomalies with impaired lung function. Most patients have subtle presentation at birth and milder forms in childhood. Functional limitations due to PS are usually minimal. Surgical treatment aims to improve pulmonary functions arising from severe thoracic deformities but is more often done to enhance the cosmesis. The use of adipose-derived mesenchymal stem cells and fat transfer have shown promising results in recent times for correction of chest defects and breast augmentation. Gaining deeper insights into the etiopathogenesis and clinical presentation of PS will improve the clinical recognition and management of this rare condition. In this review article, we aim to outline the details of this syndrome including its etiopathogenesis, evolution, spectrum of clinical manifestations, other systemic associations, diagnostic modalities, and recent advances in treatment.
PubMed: 34012849
DOI: 10.21037/tp-20-320 -
Viruses Oct 2022European brown hare syndrome (EBHS) is one of the main causes of mortality in brown hares () and mountain hares () in Europe. Since the mid-1990s, this highly lethal and...
European brown hare syndrome (EBHS) is one of the main causes of mortality in brown hares () and mountain hares () in Europe. Since the mid-1990s, this highly lethal and contagious plague has been widespread in many European countries, contributing to a drastic decline in the number of free-living and farmed hares. A second lagovirus, able to infect some species of hares is rabbit haemorrhagic disease virus 2 (RHDV2; GI.2) recognised in 2010, a new viral emergence of RHDV (GI.1) which is known to be responsible for haemorrhagic disease in rabbits-RHD. The aim of this study was to evaluate the current EBHS epidemiological situation on the basis of the presence of antibodies to European brown hare syndrome virus (EBHSV) and anti-RHDV2 antibodies in sera collected from free-ranging hares in Central and Southeastern Poland in 2020-2021. Additionally, studies on the presence of EBHSV and RHDV2 antigens or their genetic material in the blood and internal organs taken from brown hares between 2014 - 2021 have been carried out. The results of the serological examination showed nearly 88% of tested blood samples were positive for EBHSV antibodies. No EBHSV was identified in the examined hares using virological and molecular tests. The positive results of EBHS serological studies confirmed the circulation and maintenance of EBHSV in free-living brown hares in Poland. However, no serological, virological or molecular evidence was obtained indicating that the brown hares tested had been in contact with RHDV2.
Topics: Animals; Rabbits; Hares; Poland; Caliciviridae Infections; Lagovirus; Hemorrhagic Disease Virus, Rabbit; Lagomorpha
PubMed: 36366520
DOI: 10.3390/v14112423