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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 -
Cardiology Journal 2021
Topics: COVID-19; Europe; Heart Diseases; Humans; Pandemics; SARS-CoV-2; Syndrome
PubMed: 33645626
DOI: 10.5603/CJ.a2021.0028 -
Postepy Dermatologii I Alergologii Aug 2023There have been many studies on the association between vitiligo and metabolic syndrome, while only few scientific papers on vitiligo and insulin resistance. In recent... (Review)
Review
There have been many studies on the association between vitiligo and metabolic syndrome, while only few scientific papers on vitiligo and insulin resistance. In recent years, there have been significant developments in research to trace and understand the aetiology of both conditions. In this article we have analysed pathophysiological mechanisms and the association of insulin resistance (as a component of metabolic syndrome) and vitiligo.
PubMed: 37692261
DOI: 10.5114/ada.2023.126871 -
Endocrinology, Diabetes & Metabolism... 2017Poland syndrome (PS) is a rare congenital condition, affecting 1 in 30 000 live births worldwide, characterised by a unilateral absence of the sternal head of the...
SUMMARY
Poland syndrome (PS) is a rare congenital condition, affecting 1 in 30 000 live births worldwide, characterised by a unilateral absence of the sternal head of the pectoralis major and ipsilateral symbrachydactyly occasionally associated with abnormalities of musculoskeletal structures. A baby girl, born at 40 weeks' gestation with birth weight of 3.33 kg (-0.55 SDS) had typical phenotypical features of PS. She had recurrent hypoglycaemic episodes early in life requiring high concentration of glucose and glucagon infusion. The diagnosis of congenital hyperinsulinism (CHI) was biochemically confirmed by inappropriately high plasma concentrations of insulin and C-peptide and low plasma free fatty acids and β-hydroxyl butyrate concentrations during hypoglycaemia. Sequencing of , and did not show any pathogenic mutation. Microarray analysis revealed a novel duplication in the short arm of chromosome 10 at 10p13-14 region. This is the first reported case of CHI in association with PS and 10p duplication. We hypothesise that the located on the chromosome 10 encoding hexokinase-1 is possibly linked to the pathophysiology of CHI.
LEARNING POINTS
Congenital hyperinsulinism (CHI) is known to be associated with various syndromes.This is the first reported association of CHI and Poland syndrome (PS) with duplication in 10p13-14.A potential underlying genetic link between 10p13-14 duplication, PS and CHI is a possibility.
PubMed: 28458900
DOI: 10.1530/EDM-16-0125 -
The Indian Journal of Medical Research Mar 2014
Topics: Child; Congenital Abnormalities; Humans; India; Magnetic Resonance Imaging; Male; Poland Syndrome; Radiography; Ribs; Scapula; Shoulder Joint
PubMed: 24820847
DOI: No ID Found -
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 -
Przeglad Epidemiologiczny 2018Hemorrhagic fever with renal syndrome (HFRS) is an acute viral zoonosis occurring due to the hantavirus infection. On the territory it constitutes the only case of viral... (Review)
Review
Hemorrhagic fever with renal syndrome (HFRS) is an acute viral zoonosis occurring due to the hantavirus infection. On the territory it constitutes the only case of viral hemorrhagic fever. The infections occurring in Poland are mainly caused by the Puumala and Dobrava serotypes. The pathogenetic influence of other Hanta serotypes such as Boginia, Nova and Seewis on humans is still unknown. The endemic territory of the occurrence of the hantavirus infections in Poland is the Podkarpacie region. The morbidity is not high and ranges between 0.02 and 0.14 in every 100 000 but professional literature suggests that the data concerning the territory of Poland is underestimated. So far hantavirus infections have not been reported in other areas of Poland yet the presence of the virus may be excluded. In view of literature and the significant occurrence of Hanta antibodies in patients included in the risk group, it may be claimed that the diseases caused by Hanta virus constitute a significant factor influencing the medical status of the group in focus all over the country.
Topics: Animals; Orthohantavirus; Hantavirus Infections; Hemorrhagic Fever with Renal Syndrome; Humans; Mass Screening; Poland; Rodentia
PubMed: 30810003
DOI: 10.32394/pe.72.4.23 -
European Journal of Cardiovascular... Aug 2015Frailty Syndrome is one of the key health problems in geriatrics, strongly affecting poor prognosis. There is a growing interest in the relevance of this syndrome in... (Review)
Review
Frailty Syndrome is one of the key health problems in geriatrics, strongly affecting poor prognosis. There is a growing interest in the relevance of this syndrome in cardiovascular disease. The diagnosis of Frailty Syndrome in the elderly cardiac population is essential for an accurate risk stratification and for making therapeutic decisions. Most risk assessment systems used in cardiology are based on chronological age, which does not always reflect the biological age of a patient, therefore making an inadequate risk estimation. This paper discusses the definitions of Frailty Syndrome and research tools used to identify it. We specifically address the role of Frailty Syndrome in cardiovascular disease and the diagnostic and therapeutic difficulties in patients with Frailty Syndrome, emphasizing the role of the identification of Frailty Syndrome in making therapeutic decisions and the stratification of cardiovascular risk in patients with cardiologic conditions.
Topics: Aged; Cardiovascular Diseases; Frail Elderly; Geriatric Assessment; Health Status; Humans; Risk Assessment; Syndrome
PubMed: 25595359
DOI: 10.1177/1474515114568059 -
Journal of Indian Association of... 2022The humero-pectoral band in Poland syndrome is a rare presentation and needs urgent surgery because it restricts the shoulder abduction of the patient. In our case,...
The humero-pectoral band in Poland syndrome is a rare presentation and needs urgent surgery because it restricts the shoulder abduction of the patient. In our case, instead of excising the band, we have made use of the tissue by including it in the Z-plasty flaps which make the flaps reliable even though they were supplied by a narrow base.
PubMed: 36530831
DOI: 10.4103/jiaps.jiaps_208_21 -
Hand (New York, N.Y.) Jul 2022Poland syndrome (PS) is a congenital condition characterized by pectoralis hypoplasia and an ipsilateral hand anomaly that frequently necessitates surgery in childhood....
BACKGROUND
Poland syndrome (PS) is a congenital condition characterized by pectoralis hypoplasia and an ipsilateral hand anomaly that frequently necessitates surgery in childhood. This study aimed to determine long-term functional and psychosocial implications of PS.
METHODS
Patients underwent strength testing of their affected limb by comparing with their contralateral arm. They completed Disabilities of the Arm, Shoulder, and Hand (DASH), 36-item Short-Form Health Survey (SF-36), and several Patient-Reported Outcome Measurement Information System (PROMIS) surveys. Aggregate scores were compared with population norms.
RESULTS
Twenty-eight patients were enrolled, and 16 returned for strength testing. The average age was 42 years (range, 18-65 years), and the average follow-up was 25 years (range, 1-52 years). Dynamometer testing showed decreased strength in shoulder internal rotation and abduction/adduction, hand grip, and key pinch/tip pinch. Average DASH and SF-36 scores were comparable with population norms. The PROMIS Upper Extremity score (46.2) was significantly lower than the average 50 (SD, 10.0); the Social Roles score (57.3) indicated significantly less disability than the general population. Seventy-nine percent reported higher than average satisfaction with life, 82% had normal self-esteem, and 21% and 4% met screening criteria for depression and anxiety, respectively. The Derriford Appearance Scale revealed that 68% of patients identified PS as their most self-conscious feature, with 36% reporting subsequent life adjustments.
CONCLUSIONS
This cohort of PS patients self-reported more favorable functional, psychological, and emotional outcomes than expected based on significant shoulder and hand strength deficits. Despite these deficits, patients make adaptations, allowing fulfilling lives with psychosocial functioning similar to their peers.
Topics: Adult; Disability Evaluation; Hand Strength; Humans; Patient Reported Outcome Measures; Poland Syndrome; Upper Extremity
PubMed: 34002631
DOI: 10.1177/1558944720963864