Poland Syndrome Research Articles

Het syndroom van Poland: een casusbespreking

Poland syndrome: a case report Poland syndrome (PS) is a rare congenital disorder characterized by the absence of the pectoralis major or minor muscle. This syndrome can be associated with a wide variety of other abnormalities. This case concerns a 5-year-old boy with thoracic asymmetry without other clinical abnormalities or functional impairment. An ultrasound confirmed the absence of the pectoralis minor muscle. The additional pediatric examination, abdominal ultrasound and chest X-ray were normal. The characteristics, diagnosis and treatments of PS are discussed based on a literature review.

Pterygium axillae in association with Poland Syndrome

We report the case of a 2-year-old boy with a left-sided axillary pterygium and concomitant Poland’s Syndrome. The Pterygium presented as a deep web extending from the lateral thorax to the lower arm, severely restricting shoulder motion. Following excision of the entire fibrous membrane and multiple Z-plasty release of the skin, shoulder movement was greatly improved. We speculate that the pterygium may represent anlage from the absent pectoralis muscle.

Poland Syndrome: Breast Reconstruction Outcomes in 10 Years (2013-2023)

Poland Syndrome: Breast Reconstruction Outcomes in 10 Years (2013-2023)

A rare case report of left-sided Poland syndrome in females with hand anomalies and aplastic anemia with pancytopenia

A rare case report of left-sided Poland syndrome in females with hand anomalies and aplastic anemia with pancytopenia

Poland Syndrome Presenting with Failure to Thrive: A Case Report

Poland Syndrome Presenting with Failure to Thrive: A Case Report

Prevalence of the metabolic syndrome in Poland based on the new 2022 definition

Prevalence of the metabolic syndrome in Poland based on the new 2022 definition

Factors influencing final rendering in areola tattoo reconstruction: a statistical analysis.

Reconstruction of the nipple-areola complex announces the end of breast reconstruction process, sometimes difficult to live for the patient, and significantly improves the perception of body image. In literature there are no studies addressing the possible influencing factors of the final rendering of areola reconstruction with tattoo. The aim of the present study was to evaluate all the factors which could influence the yield and the final result of the nipple areola complex pigmentation. 97 patients who underwent areolar tattooing between January 2018 and February 2020 were retrospectively reviewed. Breast reconstruction timing and personal history, as well as surgical details were recorded. Mean age was 52 years old (range 29-71), almost the totality of cases was women including even 2 men (one with Poland syndrome and one post mastectomy). 27 patients needed bilateral tattooing. 22 had history of adjuvant radiotherapy, 16 received neoadjuvant chemotherapy and 4 adjuvant chemotherapy. In the logistic regression analysis, radiotherapy resulted a risk factor for retattooing (p<0.05) while the autologous breast reconstruction resulted a protective factor for retattooing. Neo - and adjuvant chemotherapy were not statistically significant. Tissue thickness, sex, reconstructive technique and history of radiotherapy could influence the final result in areola reconstruction with tattoo, and must be taken into account to obtain the best result, knowing when the pigmentation has to be repeated.

Cholesterol-Years and the risk of the first MI

Abstract Background Low-density lipoprotein cholesterol (LDL-C) has been determined as one of the causal factors of Atherosclerotic Cardiovascular Disease (ASCVD). The term "cholesterol-years" represents the cumulative exposure of the arterial wall to LDL-C during the lifetime, and is measured by multiplication of patient’s age, and LDL-C level. According to the theory, exceeding a certain number of "cholesterol-years" increases the risk of myocardial infarction (MI) [1]. So far, there are no studies that assess the effect of "cholesterol-years" on the risk of the first MI. Purpose We aimed to determine whether "cholesterol-years", as an indicator of cumulative exposure to LDL-C, is associated with the risk of development of the first MI in Polish patients. Method Data were extracted from patients from years 2016-2022, who were participants of the Polish Registry of Acute Coronary Syndromes (PL-ACS), a national, multicenter, ongoing, prospective observational registry that includes all patients hospitalized with the acute coronary syndrome (ACS) in Poland. The study group consisted of patients who had not previously been treated with lipid-lowering therapy, with first MI, and had the available data for LDL-C. The association between the "cholesterol-years" and the occurrence of the first MI was assessed using the Spearman’s correlation. All continuous variables were presented as mean (SD), and categorical variables were shown as absolute numbers and percentages. Results The studied group constituted 35,747 patients, with the mean age of 66.5 years, of whom 36% were women. 25,6% of patients had diabetes, 70,8% arterial hypertension, and 62.6% were past-or-present smokers. In patients with the first myocardial infarction, there is a significant linear correlation between cholesterol-years and the age at which the first myocardial infarction occurs. In our observation, exceeding 6,000 "cholesterol-years" at the age of 40 increases the risk of the first myocardial infarction. Conclusion In the large, real-world population, the risk of the first myocardial infarction was linearly correlated with the number of "cholesterol-years", which supports the "cholesterol-years" theory of the risk of development of the first MI.Baseline Characteristics of PatientsCholesterol-years in the study group

Bilateral Free Deep Inferior Epigastric Artery Perforator Flaps for Reconstruction following Mastectomy in Poland Syndrome Patients.

Poland syndrome is classically described as symbrachydactyly, with hypoplasia of the pectoralis major and other upper thoracic musculoskeletal structures. It is thought to be caused by intrauterine interruption in subclavian arterial flow and often includes breast hypoplasia. Affected vasculature can pose a challenge for reconstruction with free flaps because inflow may not be reliable in this patient population. We present the rare case of a 28-year-old woman with left-sided Poland syndrome, significant family history of breast cancer, and BRCA1+ mutation who underwent bilateral prophylactic nipple-sparing mastectomies with successful immediate bilateral deep inferior epigastric artery perforator free flap reconstruction. The surgical literature in this clinical scenario is also reviewed. Preoperative computed tomography angiography of the chest successfully demonstrated the patency and quantified the caliber of the internal mammary vessels to support free flap breast reconstruction. Free tissue transfer is a viable option for breast reconstruction in patients with Poland syndrome undergoing mastectomy guided by preoperative computed tomography angiography to characterize the internal mammary vasculature.

Demographics of Anterior Chest Wall Deformity Patients: A Tertiary Children's Hospital Experience

IntroductionAnterior chest wall deformities consist of abnormal development of the chest, with the most common congenital deformities being pectus excavatum (PE) and pectus carinatum (PC). Surgical series are common, but less research is present assessing the demographics of all who present for initial evaluation. The purpose of this study is to describe the patient characteristics of those who present for ambulatory surgical evaluation. MethodsData were collected from initial patient visits to an established multispecialty chest wall deformities program at a large Children's Hospital from 2017 to 2021. Variables assessed included primary diagnosis, age, sex, race/ethnicity, and whether surgical correction was performed. ResultsA total of 1510 children were evaluated: 50.0% (n = 755) with PE, 43.3% (n = 653) with PC, 2.7% (n = 41) with mixed chest wall deformities, 0.7% (n = 10) with Poland syndrome, 1.1% (n = 17) with Currarino-Silverman syndrome, and 2.3% (n = 34) with other anterior chest wall deformities. Males and females presented at mean age of 12.8 (4.2) and 10.9 (5.5) years, respectively (P = 0.001). White children represented 61.1% of the overall population while Hispanic children represented 26.3%. White, non-Hispanic children represented 61.9% and 71.5% and Hispanic children represented 26.0% and 26.3% of the PE and PC populations, respectively. ConclusionsMost patients seen in an urban chest wall deformities clinic were White, non-Hispanic; however, the proportion of other groups such as Hispanic and Asian is greater in this cohort than previously described. Further research is ongoing to ascertain the extent to which disease predisposition versus access to care play roles in this population.

Compressive external bracing in pectus carinatum : Results of the first 100 patients

Objective: Pectus carinatum is the second most common chest wall deformity causing psychological problems. There has been a&#x0D; growing interest in the conservative treatment of the disease in recent years. Here, we present results of the first 100 patients who were&#x0D; treated with compressive external bracing therapy.&#x0D; Patients and Methods: A total of one hundred patients who were treated with compressive external bracing between 2017-2023&#x0D; were reviewed from database. Parameters recorded include demographics, type of the deformity, duration of the treatment time,&#x0D; complications, and patient satisfaction.&#x0D; Results: Among 100 patients 88 were male (88%) and 12 were female (12%) and the mean age was 13.3 years (3-19). 76 patients (76%)&#x0D; had a symmetric pectus carinatum and 24 patients (24%) had asymmetric. 23 (23%) patients had scoliosis, 9 (9%) had kyphosis, 1 (1%)&#x0D; had Poland Syndrome and 1 (1%) patient had Marfan Syndrome as accompanying anomalies. Quality of Life Questionnaire revealed&#x0D; 94.8 % satisfaction in patients who completed the treatment.&#x0D; Conclusion: Compressive external bracing is associated with satisfactory results in the treatment of pectus carinatum. This nonsurgical&#x0D; intervention enables us to treat more patients in younger ages with lesser comorbidity than surgical intervention.

Agenesis of Pectoralis Major Muscle in Late-Onset GFPT1-Related Congenital Myasthenic Syndrome: A Case Report.

The objective of this study was to expand the phenotypic spectrum of glutamine-fructose-6-phosphate transaminase 1 (GFPT1)-related congenital myasthenia syndrome (CMS). A 61-year-old man with agenesis of the left pectoralis major muscle presented with progressive muscle weakness for a decade that transiently improved after exertion. His examination revealed proximal and distal muscle weakness in upper extremities and proximal muscle weakness in lower extremities. Muscle enzymes were elevated. An electromyogram revealed a myopathic pattern; however, a muscle biopsy of deltoid muscle and genetic testing for limb-girdle muscular dystrophies were nondiagnostic. A 3-Hz repetitive nerve stimulation of the spinal accessory nerve recording from trapezius muscle demonstrated a >20% drop in amplitude of the 5th compound motor action potential relative to 1st at both baseline and after 45-second exercise. Acetylcholine receptor binding, lipoprotein-related protein 4, muscle-specific kinase, and voltage-gated calcium channel P/Q antibodies were negative. Genetic testing targeting CMS revealed 2 likely pathogenic variants within GFPT1: novel c.7+2T>G (intron 1) that was predicted to result in a null allele and known c*22 C>A (exon 19) associated with reduced GFPT1 expression. His muscle strength dramatically improved after pyridostigmine initiation. In addition to other reported neurodevelopmental abnormalities, pectoralis major muscle agenesis (or Poland syndrome) may be a clinical manifestation of GFPT1-related CMS.

A Rare Incidence of Poland’s Syndrome in a Female Child: A Case Report

Poland's syndrome is a rare condition characterized by the underdevelopment or absence of chest muscles on one side of the body and malformation of the hand and arm. This condition affects males more frequently than females and its cause is still unknown. The diagnosis is usually made in childhood, but in some cases, it may not be evident until adolescence or adulthood. Treatment options include surgical reconstruction and prosthetic devices to improve arm and hand function and appearance. While this syndrome can have a significant impact on a person's physical and emotional well-being, early intervention and appropriate management can lead to improved quality of life. In our case it was an accidental finding in a 7 months old female with severe pneumonia for whom conservative management was done. We are interested in reporting this case because of its rare presentation, so cases would not get missed by the treating clinician.

Sprengel deformity and symbrachydactyly in Poland syndrome

Sprengel deformity and symbrachydactyly in Poland syndrome

Analysis of the Diet Quality and Nutritional State of Children, Youth, and Young Adults with Prader-Willi Syndrome: A Polish Multiple Case Study.

Given the lack of data on dietary quality in young individuals with Prader-Willi syndrome (PWS) in Poland, a multiple case study was conducted in which anthropometric measurements and 7-day dietary records were collected from 20 subjects with PWS. The study group consisted of 8 females and 12 males with a mean age of 14.8 years and a mean BMI of 21.6. Based on BMI analysis, five subjects were overweight, including two subjects who were obese. The study showed that 35% of the subjects had energy intakes above the recommended levels. Protein deficiency was found in one subject in the analyzed diets. However, fat intake was excessive in four subjects, and the majority exceeded the recommended intake of saturated fatty acids. Vitamin E and B12 deficiencies were found in 40% and 85% of the subjects, respectively. All subjects had inadequate intakes of vitamin D and iodine, while the majority had deficiencies in sodium and copper intakes. Calcium intake was deficient in 35% of the subjects. However, most subjects met recommendations for the intakes of other minerals, vitamins, and fiber. These findings confirm the suboptimal dietary patterns of Polish individuals with PWS, with deficits observed in the intake of certain vitamins and minerals.

Prenatal diagnosis of Poland-Möbius syndrome by multimodality fetal imaging.

We describe prenatal diagnosis of Poland-Möbius syndrome using a combination of ultrasound and MRI. Poland syndrome was diagnosed based on absence of the pectoralis muscles associated with dextroposition of the fetal heart and elevation of the left diaphragm. Associated brain anomalies that led to the diagnosis of Poland-Möbius syndrome, included ventriculomegaly, hypoplastic cerebellum, tectal beaking, and a peculiar flattening of the posterior aspect of the pons and medulla oblongata, which has been reported by postnatal diffusion tensor imaging studies as a reliable neuroimaging marker for Möbius syndrome. Since abnormalities of cranial nerves VI and VII may be difficult to detect prenatally, careful attention to the appearance of the brain stem as illustrated in the current report may aid in the prenatal diagnosis of Möbius syndrome.

Complete Poland syndrome with Hepatic Evisceration and Diaphragmatic Eventration Case Report

Complete Poland syndrome with Hepatic Evisceration and Diaphragmatic Eventration Case Report

Epidemiology of Congenital Upper-Limb Anomalies in Southern Taiwan Based on the Updated Oberg, Manske, and Tonkin Classification: A Series of 1,335 Anomalies in 1,188 Patients

This study aimed to investigate the relative frequency of congenital upper-limb anomalies (CULAs) in southern Taiwan using the 2020-updated the Oberg, Manske, and Tonkin (OMT) classification system and evaluate the practicality of the new classification system. We retrospectively reviewed patients with CULAs from 1987 to 2021 at a referral center in southern Taiwan. All patients were analyzed based on medical records, photographs, and radiographs, and the anomalies were classified according to the 2020 OMT classification system. A total of 1,188 patients with 1,335 CULAs were retrospectively reviewed. The results demonstrated that the most common type of CULA was malformations (1,092 cases), followed by dysplasias (144 cases), syndromes (51 cases), and deformations (48 cases). Among the malformations, radial polydactyly was the most common anomaly (732 cases), followed by simple syndactyly (66 cases). Among the dysplasias, camptodactyly was the most common anomaly (52 cases), followed by thumb-in-palm deformity (45 cases) and vascular tumors (17 cases). In the deformations, constriction ring sequence accounted for all cases. Poland syndrome (21 cases) occurred most often in the category of syndromes. The results of this study show that radial polydactyly (732 cases, 55%) is the most common CULA in southern Taiwan, followed by simple syndactyly (66 cases, 5%) and then camptodactyly (52 cases, 4%). The OMT classification system is reasonably practical for precise classification of CULAs and enables easy comparison of studies over different time periods. However, continually updating the OMT classification system is required to better categorize the highly variable presentations of CULAs.

Diagnosis and Management of Mucopolysaccharidosis Type II (Hunter Syndrome) in Poland.

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 IDS 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.

The Level of Intima-Media Thickness in Patients with Metabolic Syndrome in Poland Depending on the Prevalence of Type 2 Diabetes

Background: Metabolic syndrome (MetS), increasingly diagnosed among the Polish population, is a combination of factors that are associated with an increased risk of atherosclerosis and cardiovascular diseases. Intima-media thickness (IMT) of the common carotid artery has been suggested as, simply, a non-invasive and reproducible marker of the early stages of the atherosclerotic process. The carotid IMT can also be a strong predictor of future cerebral and cardiovascular events. The aim of our study was to evaluate atherosclerotic lesions in carotid vessels in patients with MetS depending on the presence of DMt2 and to assess which demographic factors affect the level of IMT. The study involved 335 subjects diagnosed with MetS, including 211 females (65%) and 124 males (37%) aged 37–82. The diagnosis of MetS was made on the basis of the International Diabetes Federation (IDF) criteria. The patients were divided into two subgroups: with DMt2 and without DMt2. The value of IMT depended on gender, education, and smoking status. We noticed that patients with DMt2 had the highest measurement of IMT compared with other groups (1.01 vs. 0.98). Additionally, a statistically significant difference between the subgroup with DMt2 and those without DMt2 was found (1.01 vs. 0.92; p &lt; 0.005). Ultrasound assessment of the carotid IMT should be used more often in the diagnosis and monitoring of high cardiovascular risk and early progression of atherosclerosis, especially in patients with MetS with current DMt2.