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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 -
Journal of Cardiothoracic Surgery Jan 2023Poland's syndrome, a rare genetic disorder that accompanies malignancies, musculoskeletal disorders, cardiac and genitourinary syndromes. There is no study that...
Poland's syndrome, a rare genetic disorder that accompanies malignancies, musculoskeletal disorders, cardiac and genitourinary syndromes. There is no study that represents the association between cardiac angiosarcoma and Poland's syndrome. A 24-year-old female patient previously diagnosed with Poland's syndrome was admitted to our hospital complaining of dyspnea. Diagnostic imaging showed an irregular mass in the right atrial cavity. After successful surgery, she was discharged uneventfully and the 3rd month oncologic follow-up reveals none of residual mass. The coexistence has not been diagnosed and treated in a cardiac surgery department before. With this presentation, we aimed to contribute to the literature with this presentation, for the right and early diagnosis and management of possible new cases in the future can be diagnosed and treated correctly and early.
Topics: Female; Humans; Young Adult; Adult; Hemangiosarcoma; Mediastinal Neoplasms; Thymus Neoplasms; Poland Syndrome; Heart Neoplasms
PubMed: 36653856
DOI: 10.1186/s13019-023-02138-z -
Neurologia I Neurochirurgia Polska 2023Progressive supranuclear palsy (PSP) and corticobasal syndrome (CBS) are clinical manifestations of tauopathies. They are commonly associated with rapid motor and... (Review)
Review
INTRODUCTION
Progressive supranuclear palsy (PSP) and corticobasal syndrome (CBS) are clinical manifestations of tauopathies. They are commonly associated with rapid motor and cognitive deterioration. Sleep disturbances are less frequently described as a feature of these diseases, though they are reported among 50-75% of PSP patients.
STATE OF THE ART
Apart from various clinical manifestations, sleep abnormalities in PSP and CBS seem to be a factor enhancing pathogenesis as well its consequences. Multiple researchers have looked into the issue of whether the complexity of sleep disturbances in PSP and CBS could be linked to atrophic changes within structures crucial for daytime regulation, coexisting pathologies, or other less explored mechanisms.
CLINICAL SIGNIFICANCE
Among sleep abnormalities in PSP and CBS have been reported excessive daytime sleepiness, night-time insomnia, reduction of total sleep time, more pronounced sleep fragmentation, restless leg syndrome (RLS), agrypnia excitata, periodic limb movements, sleep respiratory disturbances, rapid-eye movement behaviour disorder, and others.
FUTURE DIRECTIONS
The aim of this review was to elaborate upon the significance of sleep abnormalities in tauopathic parkinsonian syndromes, and to determine their usefulness in differential diagnosis with synucleinopathic parkinsonian syndromes. Extended analyses of sleep disturbances may provide a different perspective on atypical parkinsonisms.
Topics: Humans; Supranuclear Palsy, Progressive; Corticobasal Degeneration; Syndrome; Parkinsonian Disorders; Sleep Wake Disorders
PubMed: 36928793
DOI: 10.5603/PJNNS.a2023.0019 -
Medicina (Kaunas, Lithuania) Jul 2022: Mental health disorders are often the consequence of hormonal disorders such as those accompanying polycystic ovary syndrome (PCOS), where changes in appearance and...
: Mental health disorders are often the consequence of hormonal disorders such as those accompanying polycystic ovary syndrome (PCOS), where changes in appearance and having to deal with a number of other problems occur due to this illness. The objective of this study was to determine the prevalence and severity of anxiety and depression symptoms, the level of ego-resiliency, and the ways that women with PCOS cope with stress compared to healthy women in order to determine the influence of socio-demographic characteristics in relation to levels of anxiety and depression with ego-resiliency and stress-coping methods. : The study was conducted in Poland in 2021 and included 230 women with PCOS and 199 healthy controls aged 20-40 years old. The hospital anxiety and depression scale (HADs), ego-resiliency scale, as well as the MINI-COPE inventory were used. : The women with PCOS had higher levels of anxiety and depression and poorer ego-resiliency in comparison to the healthy women. The women with PCOS used passive stress-coping strategies significantly more commonly than the healthy women. Living in rural areas, having a lower level of education and being childless increased anxiety levels. Similarly, being over 30, living in a rural area, having a lower level of education, being childless, and being obese increased depression levels in the women with PCOS. A low level of ego-resiliency and passive stress-coping strategies are predictors of high levels of anxiety and depression in women with PCOS. : Women with PCOS should be checked for anxiety and depression. They should also be checked to see whether they have the resources to cope with chronic stress in order to optimize therapeutic interventions.
Topics: Adaptation, Psychological; Adult; Anxiety; Anxiety Disorders; Depression; Female; Humans; Polycystic Ovary Syndrome; Young Adult
PubMed: 35888661
DOI: 10.3390/medicina58070942 -
Radiology Case Reports Apr 2020Poland syndrome refers to a chest wall disorder in which there is a deficiency of the pectoral musculature. Möbius syndrome is a rare disorder in which there is absence...
Poland syndrome refers to a chest wall disorder in which there is a deficiency of the pectoral musculature. Möbius syndrome is a rare disorder in which there is absence or hypoplasia of the facial or abducens nerve, either unilaterally or bilaterally. Described here is a case in a newborn male in which both conditions manifest simultaneously as Poland-Möbius syndrome. The imaging findings here serve as a useful guide for the radiologist and ordering providers by reinforcing the need for dedicated cranial nerve imaging in patients who have deficiencies in anterior chest wall musculature.
PubMed: 32055264
DOI: 10.1016/j.radcr.2020.01.002 -
Metabolites Jul 2022The study aimed to investigate the association between the estrogen receptor alpha (ERα) polymorphism and the prevalence of metabolic syndrome (MetS) and obesity, as...
The study aimed to investigate the association between the estrogen receptor alpha (ERα) polymorphism and the prevalence of metabolic syndrome (MetS) and obesity, as well as the coexistence of MetS and obesity, in peri- and post-menopausal Polish women. The study group consisted of 202 peri-menopausal and 202 post-menopausal women. ERα polymorphism: Xba I and Pvu II, MetS, BMI, and serum estrogen concentration were analyzed. MetS was found in 29% of the peri-menopausal women and in 21% of the post-menopausal women. BMI did not significantly differ between the peri- and post-menopausal women (≈42% were normal weight, ≈40% were overweight, and ≈18% were obese), ( = 0.82). Serum estrogen concentration in the peri-menopausal women was 91 ± 75 pg/mL, while that in the post-menopausal women was 17 ± 9. pg/mL, on average. Peri-menopausal women with AA and TT genotypes of the ERα polymorphism have a lower risk of obesity and MetS and the co-existence of obesity and MetS, whereas those women with the G or C allele have a higher risk of those health problems.
PubMed: 35893240
DOI: 10.3390/metabo12080673 -
Diagnostics (Basel, Switzerland) May 2024We present a case of a neonate born with prenatal diagnosis of Cantrell syndrome and ectopia cordis. This extremely rare congenital disorder underscores the significant...
We present a case of a neonate born with prenatal diagnosis of Cantrell syndrome and ectopia cordis. This extremely rare congenital disorder underscores the significant need for multimodality imaging to plan further management. The aim of the study was to present the thoracoabdominal syndrome using a three-dimensional computed tomography angiography. The CT scans confirmed complex intracardiac defects consisting of tetralogy of Fallot, total anomalous pulmonary venous return and persistent left superior vena cava. In conclusion, Cantrell syndrome necessitates a multidisciplinary approach, from the onset of the prenatal diagnosis followed by prompt medical imaging and surgical interventions after birth. The thoracoabdominal wall defect including complete ectopia cordis is an extremely rare disorder with a fatal outcome.
PubMed: 38786301
DOI: 10.3390/diagnostics14101003 -
Cardiology Journal 2020
Topics: Acute Coronary Syndrome; Betacoronavirus; COVID-19; Coronavirus Infections; Humans; Myocardial Infarction; Pandemics; Pneumonia, Viral; Referral and Consultation; SARS-CoV-2
PubMed: 33165896
DOI: 10.5603/CJ.2020.0152 -
Nutrients Sep 2019Cyclitols play a particularly important role in cell functioning because they are involved in ion channel physiology, phosphate storage, signal transduction, cell wall... (Review)
Review
Cyclitols play a particularly important role in cell functioning because they are involved in ion channel physiology, phosphate storage, signal transduction, cell wall formation, membrane biogenesis, osmoregulation and they have antioxidant activity. They are involved in the cell membranes as a phosphatidyl inositol, an inositol triphosphate precursor, which acts as a transmitter that regulates the activity of several hormones, such as follicle-stimulating hormone, thyrotropin, and insulin. The aim of this paper is to characterize the selected cyclitols: -inositol, D--inositol, and D-pinitol in type-2 metabolic syndrome and diabetes treatment. Results and discussion: Cyclitols have certain clinical applications in the treatment of metabolic syndromes and are considered to be an option as a dietary supplement for the treatment or prevention of gestational diabetes mellitus and type-2 diabetes. Improved metabolic parameters observed after using cyclitols, like -inositol, in the treatment of polycystic ovary syndrome and type-2 diabetes suggest that they may have a protective effect on the cardiovascular system. Pinitol, together with inositol,maybe responsible for improving lipid profiles by reducing serum triglyceride and total cholesterol. Pinitol is also well-researched and documented for insulin-like effects. inositol, D-inositol, and D-pinitol indicate a number of therapeutic and health-promoting properties.
Topics: Animals; Biomarkers; Blood Glucose; Cyclitols; Diabetes Mellitus, Type 2; Dietary Supplements; Humans; Hypoglycemic Agents; Inositol; Lipids; Metabolic Syndrome; Treatment Outcome
PubMed: 31574903
DOI: 10.3390/nu11102314 -
Animals : An Open Access Journal From... Dec 2020Short beak and dwarfism syndrome (SBDS), which was previously identified only in mule ducks, is now an emerging disease of Pekin ducks in China and Egypt. The disease is...
Short beak and dwarfism syndrome (SBDS), which was previously identified only in mule ducks, is now an emerging disease of Pekin ducks in China and Egypt. The disease is caused by the infection of ducks with a genetic variant of goose parvovirus-novel goose parvovirus (nGPV). In 2019, SBDS was observed for the first time in Poland in eight farms of Pekin ducks. Birds in the affected flock were found to show growth retardation and beak atrophy with tongue protrusions. Morbidity ranged between 15% and 40% (in one flock), while the mortality rate was 4-6%. Co-infection with duck circovirus, a known immunosuppressive agent, was observed in 85.7% of ducks. The complete coding regions of four isolates were sequenced and submitted to GenBank. The phylogenetic analysis revealed a close relationship of Polish viral sequences with the Chinese nGPV. Genomic sequence alignments showed 98.57-99.28% identity with the nGPV sequences obtained in China, and 96.42% identity with the classical GPV (cGPV; Derzsy's disease). The rate of amino acid mutations in comparison to cGPV and Chinese nGPV was higher in the Rep protein than in the Vp1 protein. To our knowledge, this is the first report of nGPV infection in Pekin ducks in Poland and Europe. It should be emphasized that monitoring and sequencing of waterfowl parvoviruses is important for tracking the viral genetic changes that enable adaptation to new species of waterbirds.
PubMed: 33333781
DOI: 10.3390/ani10122397