poland anomaly

UNLABELLED: Poland syndrome is a rare congenital syndrome that mostly includes the absence of unilateral pectoralis major muscle and digit anomalies like symbrachydactyly. It can also present with other varied manifestations like the absence of ribs, bilateral absence of pectoralis major muscle, urogenital anomalies, dextrocardia, etc. CASE PRESENTATION: We herein present a case of a 6-year-old boy with Poland syndrome as an incidental finding, the second one reported from Nepal, 11 years after the first report...

Poland syndrome is a congenital anomaly with two clinical features: unilateral agenesis of the pectoralis major and ipsilateral hand symbrachydactyly. We report a rare case of bilateral Poland syndrome with several unique features. Poland syndrome is thought to be due to a vascular insult to the subclavian axis around the sixth week of gestation. Our patient has multiple rare and unique features of Poland syndrome. For the first time in the literature, we associate Poland syndrome with cone-shaped epiphysis of the metacarpals of all fingers...

In recent years, off-label use of sirolimus (SIR) has been gaining attention in the clinical practice. However, since it is critical to achieve and maintain therapeutic blood levels of SIR during treatment, the regular monitoring of this drug in individual patients must be implemented, especially in off-label indications of this drug. In this article, a fast, simple, and reliable analytical method for determining SIR levels in whole blood samples is proposed. Sample preparation based on dispersive liquid-liquid microextraction (DLLME) followed by liquid chromatography-mass spectrometry (LC-MS/MS) was fully optimized toward the analysis of SIR and proposed as a fast, simple, and reliable analytical method for determining the pharmacokinetic profile of SIR in whole-blood samples...

INTRODUCTION: A complex study of the antioxidant system enzymes (AOS) is an important subject of biochemical research; changes in the activity of these enzymes can be used as a biochemical marker of various processes in plants. At the same time, practically little attention has been paid to describing the regularities of these enzymatic reactions in different wood formation processes, such as xylogenesis. This article discusses the outcomes of different behaviors of AOS enzymes, which are involved in both the redistribution of the ROS balance and phenolic compounds at the early stages of wood formation in young plants of silver birch (Betula pendula Roth) with straight-grained wood and Karelian birch (Betula pendula Roth var...

A 22-year-old female presented to the surgical outpatient department with a complaint of left-breast hypoplasia. Upon physical examination, the left anterior chest wall was depressed, the left pectoral region was flattened, and the nipple was displaced. The absence of the pectoralis major sternocostal head was visible during shoulder abduction. Physical examination of the hands did not show any signs of ipsilateral digital abnormality. Chest X-ray revealed hyper translucent left-sided hemithorax with crowding of ribs and faint left breast soft tissue...

BACKGROUND: Möbius (Moebius) and Poland's syndromes are two rare congenital syndromes characterized by non-progressive bilateral (and often asymmetric) dysfunction of the 6th and 7th 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...

BACKGROUND: Poland syndrome (PS) is a rare congenital anomaly characterized by a variable clinical picture. Classic deformity consists of the unilateral hypoplasia or aplasia of the pectoralis major muscle and ipsilateral hand malformations. The aim of this study is to present disturbances in the development of upper limb in women with Poland syndrome (including digit ratio 2D:4D) in comparison to the healthy controls. METHODS: The group of patients with Poland syndrome consisted of 36 women, while the control group consisted of 50 heathy women...

In 2018, a new clinical subtype, caused by biallelic variants in the AEBP1 gene, encoding the ACLP protein, was added to the current nosological classification of the Ehlers-Danlos Syndromes (EDS). This new phenotype, provisionally termed EDS classical-like type 2 (clEDS2), has not yet been fully characterized, as only nine cases have been reported to date. Here we describe a patient, homozygous for a novel AEBP1 pathogenic variant (NM_001129.5 c.2123_2124delTG (p.Val708AlafsTer5)), whose phenotype is reminiscent of classical EDS but also includes previously unreported multiple congenital malformations...

BACKGROUND: Parents of children who have a congenital anomaly can experience significant worry about their child's health. Access to clear, helpful, and trustworthy information can provide a valuable source of support. In this study the aim was to explore the information needs of parents/carers of children with congenital anomalies across Europe. METHOD: A cross-sectional online survey was developed in nine languages to measure parents' information needs, including: (1) the 'helpfulness'/'trustworthiness' of information received from eight relevant sources, and (2) overall satisfaction with information received...

INTRODUCTION: Recent reports linking prenatal and community cannabis exposure to elevated uronephrological congenital anomaly (UCA) rates (UCAR's) raise the question of its European epidemiology given recent increases in community cannabinoid penetration there. METHODS: UCAR data from Eurocat. Drug use data from European Monitoring Centre for Drugs and Drug Addiction. Income from World bank. RESULTS: UCAR increased across Spain, Netherlands, Poland and France...

Pectus excavatum, carinatum, and arcuatum are 3 developmental chest wall deformities that may evolve during childhood and cause cardiac and/or pulmonary compression. Evaluation may include nonsurgical subspecialty consultations and imaging studies. Treatment may be nonoperative or surgical. Long-term follow-up studies have identified rare complications of traditional open repair. Routine in utero ultrasonography has led to increasing identification of congenital lung anomalies, including congenital cystic adenomatoid malformations, pulmonary sequestrations, and bronchogenic cysts...

The term symbrachydactyly has been used for the phenotype of two or three short fingers or toes, hypoplasia of the middle and distal phalanges and variable syndactyly of the affected digits. Some clinicians have extended this diagnosis to include other phenotypes, specifically cleft hand, terminal transverse limb defects, hypoplasia of the thumb and fifth finger with nubbins for fingers 2, 3, and 4 and the hand deformity of the Poland anomaly. A malformations surveillance program can identify enough affected infants to characterize a phenotype...

Congenital breast deformities usually occur during adolescence and can disturb the self-development and affect the identity during this crucial stage. Several surgical techniques are now available to correct these different anomalies. The objective is to clarify the place of lipomodeling in thoraco-mammary malformations, resuming the different indications, the results, as well as the limits and potential complications. The adipose tissue was harvested by soft aspiration as to reduce adipocyte trauma and using a syringe fitted with a 3...

Breast and thoracic deformities of Poland syndrome is a rare malformation known to be difficult to treat. Numerous descriptions of surgical corrections have been published but none achieved to correct severe cases before description of lipomodeling technique. The aim of this article is to present thoraco-mammary deformity of Poland syndrome, corrections techniques already available and therapeutical indications in primary and secondary cases. Constant anomaly of Poland syndrome is agenesis of sterno-costal part of pectoralis major muscle but other muscular anomalies can be associated...

Introduction  Autologous tissue transfers have been used in chest wall reconstruction for decades, with high morbidity. Recently, acellular dermal matrices (ADMs) have emerged as an alternative. The aim of this article is to report our initial experience in the reconstruction of malformative chest wall deformities with ADM. Methods  A prospective observational study was performed in patients with malformative chest wall deformities, who were reconstructed with ADM at our institution between 2018 and 2020...

BACKGROUND: The amount of data available online is constantly increasing, including search behavior and tracking trends in domains such as Google. Analyzing the data helps to predict patient needs and epidemiological events more accurately. Our study aimed to identify dermatology-related terms that occur seasonally and any search anomalies during the SARS-CoV-2 pandemic. METHODS: The data were gathered using Google Trends, with 69 entries between January-2010 and December-2020 analyzed...

This study aimed to provide additional information on the influence of perinatal factors on fecal (f)-calprotectin values in preterm infants. Calprotectin was determined from the first spontaneous stool (analyzed on the Alegria device by using the enzyme-linked immunosorbent assay [ELISA] method) obtained from neonates at a mean age of 3.41 ± 2.44 days of life. We analyzed 114 subjects who had a body weight of 1847.67 ± 418.6 g and were born at a gestational age of 32.6 ± 2.43 weeks, without intestinal and other congenital anomalies or any diseases other than those related to premature birth...

The formation of spilitic assemblages (i.e. chlorite and albite) has been ubiquitously involved during the evolution of continental early-Permian volcanics from the Intra-Sudetic Basin (ISB). Based on the investigation of laccolith-type and variably-altered trachyandesite exposure in the vicinity of Głuszyca Górna (Lower Silesia, Poland), we have demonstrated that apatite fission-track dating (AFT), coupled with chlorite geothermometry, can be successfully applied to denote the timing of low-temperature alterations within volcanic rocks...

For the first time changes in the 137 Cs activity in game throughout Poland, including its most contaminated part known as the Opole Anomaly, were analyzed. Due to its long physical half-life, 137 Cs continuously demonstrates high activity both in soil and biota. The species of game mammals, along with forest fruit and mushrooms, tend to accumulate this radionuclide, becoming one of the main sources of secondary contamination in people. In this study the 137 Cs activity in roe deer, wild boar and red deer muscle tissue samples, within the years of 1986-2019, were studied...

BACKGROUND: Cosmetic and social aspects of breast anomalies in Poland syndrome are not negligible. Early diagnosis and appropriate therapeutic timing may have a positive impact on quality of life. METHODS: Females affected by Poland syndrome, who had breast reconstruction between 2014 and 2018, were asked to complete the Body Uneasiness Test and the postoperative Breast-Q. Correlation between scores was evaluated. Correlation between scores was statistically evaluated...