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1.  Isolated Asymptomatic Short Sternum in a Healthy Young Girl 
Case Reports in Radiology  2014;2014:761582.
Congenital sternal defects are rare deformities frequently associated with other anomalies of the chest wall and other organ systems. Although pectus excavatum, pectus carinatum, and cleft sternum can present as isolated deformity, in most cases they are associated with heart and inner organs anomalies and described as symptoms of syndromes like Marfan syndrome, Noonan syndrome, Poland anomaly, and Cantrell pentalogy. In contrast, the etiology of an isolated defect is not well understood. We observed a short sternum (dysmorphic manubrium, hypoplastic body, and complete absence of the xiphoid process) in a completely asymptomatic 13-year-old woman. A comprehensive instrumental exams panel was performed to exclude associated anomalies of the heart and of the other organ systems. The patient was completely asymptomatic and she did not need any medical or surgical treatment. To our knowledge, this is the first case of isolated short sternum reported in literature.
PMCID: PMC4129178  PMID: 25143854
2.  Correction of Poland's Syndrome: Case Report and Review of the Current Literature 
Breast Care  2013;8(2):139-142.
Poland's syndrome, a rare congenital anomaly, consists of unilateral absence of the pectoralis major muscle, ipsilateral brachysyndactyly, and occasionally associated other malformations of the anterior chest wall, mamilla, and mamma.
Case Report
In the case of a 32-year-old woman, marked hypoplasia of the right breast and the right nipple, malformation of the right upper limb with brachysyndactyly and microdactyly were noted, all present since birth. This paper describes the surgical technique and possible complications of reconstruction of the chest wall deformity with a solid silicone implant and a latissimus dorsi flap. The current literature on the topic is reviewed.
The surgical method with autologous material and implants is a sufficient technique for chest wall reconstruction and gives a good long-term result in case of Poland's syndrome.
PMCID: PMC3683949  PMID: 24419214
Poland's syndrome; Breast hypoplasia; Breast reconstruction; Malformation
3.  Multiple cavernous malformations presenting in a patient with Poland syndrome: A case report 
Poland syndrome is a congenital disorder related to chest and hand anomalies on one side of the body. Its etiology remains unclear, with an ipsilateral vascular alteration (of unknown origin) to the subclavian artery in early embryogenesis being the currently accepted theory. Cavernous malformations are vascular hamartomas, which have been linked to a genetic etiology, particularly in familial cases, which commonly present with multiple lesions. Our case report is the first to describe multiple cavernous malformations associated with Poland syndrome, further supporting the vascular etiology theory, but pointing to a genetic rather than a mechanistic factor disrupting blood flow in the corresponding vessels.
Case presentation
A 41-year-old Caucasian man with Poland syndrome on the right side of his body presented to our hospital with a secondary generalized seizure and was found to have multiple cavernous malformations distributed in his brain, cerebellum, and brain stem, with a predominance of lesions in the left hemisphere.
The distribution of cavernous malformations in the left hemisphere and the right-sided Poland syndrome in our patient could not be explained by a mechanistic disruption of one of the subclavian arteries. A genetic alteration, as in familial cavernous malformations, would be a more appropriate etiologic diagnosis of Poland syndrome in our patient. Further genetic and pathological studies of the involved blood vessels in patients with Poland syndrome could lead to a better understanding of the disease.
PMCID: PMC3195104  PMID: 21933407
4.  Congenital Complete Absence of Pericardium Masquerading as Pulmonary Embolism 
Congenital absence of the pericardium is a rare cardiac condition, which can be either isolated or associated with other cardiac and extracardiac anomalies. There are six different types, depending on the severity of the involvement. Most of the patients with this defect are asymptomatic, especially the ones with complete absence of the pericardium. However, some patients are symptomatic, reporting symptoms that include chest pain, palpitations, dyspnea, and syncope. Diagnosis is established by the characteristic features on chest X-ray, echocardiogram, chest computed tomography (CT), and/or cardiac magnetic resonance imging (MRI). We present here a case of a 23 year-old-male, who presented to our hospital with complaints of pleuritic chest pain and exertional dyspnea, of a two-week duration. He was physically active and his past history was otherwise insignificant. His chest CT with contrast was interpreted as showing evidence of multiple emboli, predominantly in the left lung, and he was started on a heparin and warfarin therapy. A repeat chest CT with contrast three weeks later showed no significant change from the previous CT scan. Both scans showed that the heart was abnormally rotated to the left side of the chest. An echocardiogram raised the suspicion of congenital absence of the pericardium, with a posteriorly displaced heart. In retrospect, motion artifact on the left lung, attributed to cardiac pulsations and the lack of pericardium, resulted in a CT chest appearance, mimicking findings of pulmonary embolism. The misdiagnosis of pulmonary embolism was attributed to the artifact caused by excessive cardiac motion artifact on the chest CT scan. In non-gated CT angiograms, excessive motion causes an artifact that blurs the pulmonary vessels, reminiscent of a ′seagull′ or a ′boomerang′. Physicians need to be aware of this phenomenon, as well as the characteristic radiological features of this congenital anomaly, to enable them to make a correct diagnosis.
PMCID: PMC3621222  PMID: 23580923
Cardiology; congenital anomaly; radiology
5.  Poland's syndrome: report of a variant. 
Poland's syndrome is a rare congenital anomaly consisting of unilateral partial or total absence of a breast and/or pectoralis major muscle, and ipsilateral symbrachydactyly. Many structural and functional abnormalities have been described in association with the syndrome. However, only a few hemostatic disorders have been reported. The case of a 12-year-old secondary school girl with unilateral hypoplasia of the breast, absence of anterior axillary fold and absence of the pectoralis major muscle is hereby presented. She also had thrombocytopenia and several episodes of spontaneous bleeding from the ipsilateral anterior chest wall. She did well on medical treatment, with no recurrence of bleeding 10 months after treatment. The author is not aware of any previously reported case of Poland's syndrome associated with bleeding disorder in Africa. This case is presented to alert clinicians of its existence and possible association with hematological disorders.
PMCID: PMC2594813  PMID: 16532987
6.  Poland-Mobius syndrome in an infant girl 
Annals of Saudi Medicine  2009;29(6):482-484.
Mobius syndrome is a rare condition of unclear origin, characterized by a unilateral or bilateral congenital facial weakness with impairment of ocular abduction, which is frequently associated with limb anomalies. Poland described a condition in which there was unilateral absence of pectoralis major muscle and ipsilateral syndactyly. The combination of Poland-Mobius syndrome is rare, with an estimated prevalence 1:500 000. We describe a case of Poland-Mobius syndrome in association with congenital bilateral vocal fold immobility. To our knowldge, this is the first report of such an association between Poland-Mobius syndrome and congenital bilateral vocal fold immobility.
PMCID: PMC2881439  PMID: 19847089
7.  Interaction between Foxc1 and Fgf8 during Mammalian Jaw Patterning and in the Pathogenesis of Syngnathia 
PLoS Genetics  2013;9(12):e1003949.
Syngnathia (bony fusion of the upper and lower jaw) is a rare human congenital condition, with fewer than sixty cases reported in the literature. Syngnathia typically presents as part of a complex syndrome comprising widespread oral and maxillofacial anomalies, but it can also occur in isolation. Most cartilage, bone, and connective tissue of the head and face is derived from neural crest cells. Hence, congenital craniofacial anomalies are often attributed to defects in neural crest cell formation, survival, migration, or differentiation. The etiology and pathogenesis of syngnathia however remains unknown. Here, we report that Foxc1 null embryos display bony syngnathia together with defects in maxillary and mandibular structures, and agenesis of the temporomandibular joint (TMJ). In the absence of Foxc1, neural crest cell derived osteogenic patterning is affected, as osteoblasts develop ectopically in the maxillary prominence and fuse with the dentary bone. Furthermore, we observed that the craniofacial musculature is also perturbed in Foxc1 null mice, which highlights the complex tissue interactions required for proper jaw development. We present evidence that Foxc1 and Fgf8 genetically interact and that Fgf8 dosage is associated with variation in the syngnathic phenotype. Together our data demonstrates that Foxc1 – Fgf8 signaling regulates mammalian jaw patterning and provides a mechanistic basis for the pathogenesis of syngnathia. Furthermore, our work provides a framework for understanding jaw patterning and the etiology of other congenital craniofacial anomalies, including temporomandibular joint agenesis.
Author Summary
Approximately one-third of all babies born with congenital defects, exhibit malformations of the head and face. Anomalies can include cleft lip, cleft palate, and abnormal development of bones and muscles. Such defects result in significant infant mortality, as well as life-long physical and social consequences for patients. Improved repair and the development of prevention strategies requires a thorough understanding of the underlying genetic, molecular, and environmental factors that contribute to normal craniofacial development and the pathogenesis of disease. In this study, we report the first genetic model of syngnathia, a rare human craniofacial defect characterized by bony fusion of the upper and lower jaw. We discovered that Foxc1 is required for normal development of the bones and muscles of the jaw as well as the jaw joint. Our studies provide a mechanistic basis for understanding the cause of human syngnathia as well as the failure of jaw joint formation. Furthermore, our work enhances our knowledge of jaw development and may inform treatment strategies for patients with syngnathia and related craniofacial malformation conditions.
PMCID: PMC3868537  PMID: 24385915
8.  Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development 
Journal of Medical Genetics  2005;43(3):211-217.
The acronym CHARGE refers to a non‐random cluster of malformations including coloboma, heart malformation, choanal atresia, retardation of growth and/or development, genital anomalies, and ear anomalies. This set of multiple congenital anomalies is frequent, despite rare patients with normal intelligence, and prognosis remains poor. Recently, CHD7 gene mutations have been identified in CHARGE patients; however, the function of CHD7 during development remains unknown.
We studied a series of 10 antenatal cases in whom the diagnosis of CHARGE syndrome was suspected, considering that a careful pathological description would shed light on the CHD7 function during development. CHD7 sequence analysis and in situ hybridisation were employed.
The diagnosis of CHARGE syndrome was confirmed in all 10 fetuses by the identification of a CHD7 heterozygous truncating mutation. Interestingly, arhinencephaly and semi‐circular canal agenesis were two constant features which are not included in formal diagnostic criteria so far. In situ hybridisation analysis of the CHD7 gene during early human development emphasised the role of CHD7 in the development of the central nervous system, internal ear, and neural crest of pharyngeal arches, and more generally showed a good correlation between specific CHD7 expression pattern and the developmental anomalies observed in CHARGE syndrome.
These results allowed us to further refine the phenotypic spectrum of developmental anomalies resulting from CHD7 dysfunction.
PMCID: PMC2563257  PMID: 16169932
CHARGE syndrome;  CHD7 gene; development; gene expression pattern; human embryogenesis
9.  Anomalous Left Main Coronary Artery: Case Series of Different Courses and Literature Review 
Background. Congenital anomalies of the coronary arteries are a cause of sudden cardiac death. Of the known anatomic variants, anomalous origination of a coronary artery from an opposite sinus of Valsalva (ACAOS) remains the main focus of debate. Case Series. We present three cases, all presenting to our facility within one week's time, of patients with newly discovered anomalous origination of the left coronary artery from the right sinus of Valsalva (L-ACAOS). All patients underwent cardiac computed tomography for evaluation of coronary anatomy along with other forms of functional testing. Despite the high risk nature of two of the anomalies, the patients are being treated medically without recurrence of symptoms. Summary. After review of the literature, we have found that the risk of sudden cardiac death in patients with congenital coronary anomalies, even among variants considered the highest risk, may be overestimated. In addition, the exact prevalence of coronary anomalies in the general population is currently underestimated. A national coronary artery anomaly registry based on cardiac computed tomography and invasive coronary angiography data would be helpful in advancing our understanding of these cardiac peculiarities. The true prevalence of congenital coronary anomalies and overall risk of sudden cardiac death in this population are not well known. Surgical intervention remains the mainstay of therapy in certain patients though recent investigations into the pathophysiology of these abnormalities have shown that the risk of surgery may outweigh the minimal reduction in risk of sudden cardiac death.
PMCID: PMC3877606  PMID: 24455397
10.  Double superior vena cava on fistulogram: A case report and discussion 
Patient: Female, 50
Final Diagnosis: Double superior vena cava
Symptoms: —
Medication: —
Clinical Procedure: —
Specialty: Nephrology
Anatomical anomaly/variation
Superior vena cava anomalies are caused by variations in the development of the embryonic thoracic venous system. Duplication of the superior vena cava is a rare anomaly with an incidence in the general population of 0.3%. The majority of cases are asymptomatic and diagnosed incidentally by imaging done for another reason.
Case Report:
A fifty year old female patient presented to our care with a history of end stage renal disease that has been recently started on dialysis. Procedures performed included a fistulogram, PermaCath placement and angiogram of internal jugular vein. Angiogram was done and showed that the patient has a good sized cephalic vein which is wide open and mild to moderate stenosis at the subclavian area which proved to be a dual superior vena cava.
Double SVC is a rare congenital anomaly. The literature available on this congenital anomaly is sparse. The majority of cases are diagnosed incidentally on imaging for other reasons, which can alert the physician of other congenital abnormalities that will need further work up. However, these venous anomalies should be recognized, as they can have significant clinical implications, especially during central venous catheter placement, radiofrequency ablation, pacemaker insertion or coronary artery bypass graft.
PMCID: PMC3795019  PMID: 24130918
dialysis catheter; dual superior vena cava; fistulogram
11.  Normal Breastfeeding after Breast Reconstruction in a Patient with Poland's Syndrome 
Breast Care  2011;6(6):479-481.
Poland's syndrome is a rare congenital non-inherited anomaly that usually manifests itself during adolescence and is characterized by absence or deficient development of one of the breasts. To our knowledge, no case of breastfeeding after reconstruction surgery in patients with Poland's syndrome has been described.
Case Report
A 22-year-old female patient with Poland's syndrome underwent breast reconstruction. The procedure performed consisted of rotation of a myocutaneous flap harvested from the ipsilateral latissimus dorsi muscle, which was subsequently attached to the anterior thoracic wall to create a pouch and place a 300-ml round textured cohesive silicone gel-filled breast implant. 5 years later the patient got pregnant, and 1 year after delivery she is still breastfeeding normally with both breasts.
Reconstruction surgery with the latissimus dorsi muscle and a prosthesis was shown to be a potential and safe solution to achieve improvement of breast symmetry and to provide confidence and comfort in relation to self-image and, moreover, the ability to breastfeed.
PMCID: PMC3290007  PMID: 22419905
Poland's syndrome; Mammoplasty; Prostheses; Implants; Breastfeeding
12.  Poland syndrome a rare congenital anomaly 
Indian Journal of Human Genetics  2013;19(3):349-351.
Poland syndrome is a rare congenital anomaly classically consisting of unilateral hypoplasia of the sternocostal head of the pectoralis major muscle and ipsilateral brachysyndactyly. It was first described by Alfred Poland in 1840 and may occur with different gravity. Our patient is an eight-year-old Nigerian girl with left-sided anterior chest wall defect with no detectable structural heart abnormality but presented with repeated episodes of syncopal attacks following minor trauma to the anterior chest wall.
PMCID: PMC3841563  PMID: 24339551
Nigeria; pectoralis major; Poland; syndrome
13.  Leopard syndrome 
LEOPARD syndrome (LS, OMIM 151100) is a rare multiple congenital anomalies condition, mainly characterized by skin, facial and cardiac anomalies. LEOPARD is an acronym for the major features of this disorder, including multiple Lentigines, ECG conduction abnormalities, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth, and sensorineural Deafness. About 200 patients have been reported worldwide but the real incidence of LS has not been assessed. Facial dysmorphism includes ocular hypertelorism, palpebral ptosis and low-set ears. Stature is usually below the 25th centile. Cardiac defects, in particular hypertrophic cardiomyopathy mostly involving the left ventricle, and ECG anomalies are common. The lentigines may be congenital, although more frequently manifest by the age of 4–5 years and increase throughout puberty. Additional common features are café-au-lait spots (CLS), chest anomalies, cryptorchidism, delayed puberty, hypotonia, mild developmental delay, sensorineural deafness and learning difficulties. In about 85% of the cases, a heterozygous missense mutation is detected in exons 7, 12 or 13 of the PTPN11 gene. Recently, missense mutations in the RAF1 gene have been found in two out of six PTPN11-negative LS patients. Mutation analysis can be carried out on blood, chorionic villi and amniotic fluid samples. LS is largely overlapping Noonan syndrome and, during childhood, Neurofibromatosis type 1-Noonan syndrome. Diagnostic clues of LS are multiple lentigines and CLS, hypertrophic cardiomyopathy and deafness. Mutation-based differential diagnosis in patients with borderline clinical manifestations is warranted. LS is an autosomal dominant condition, with full penetrance and variable expressivity. If one parent is affected, a 50% recurrence risk is appropriate. LS should be suspected in foetuses with severe cardiac hypertrophy and prenatal DNA test may be performed. Clinical management should address growth and motor development and congenital anomalies, in particular cardiac defects that should be monitored annually. Hypertrophic cardiomyopathy needs careful risk assessment and prophylaxis against sudden death in patients at risk. Hearing should be evaluated annually until adulthood. With the only exception of ventricular hypertrophy, adults with LS do not require special medical care and long-term prognosis is favourable.
PMCID: PMC2467408  PMID: 18505544
14.  Prenatal Sonographic Diagnosis of Focal Musculoskeletal Anomalies 
Korean Journal of Radiology  2003;4(4):243-251.
Focal musculoskeletal anomalies vary, and can manifest as part of a syndrome or be accompanied by numerous other conditions such as genetic disorders, karyotype abnormalities, central nervous system anomalies and other skeletal anomalies. Isolated focal musculoskeletal anomaly does, however, also occur; its early prenatal diagnosis is important in deciding prenatal care, and also helps in counseling parents about the postnatal effects of numerous possible associated anomalies. We have encountered 50 cases involving focal musculoskeletal anomalies, including focal limb dysplasia [radial ray abnormality (n=3), mesomelic dysplasia (n=1)]; anomalies of the hand [polydactyly (n=8), syndactyly (n=3), ectrodactyly (n=1), clinodactyly (n=6), clenched hand (n=5)]; anomalies of the foot [clubfoot (n=10), rockerbottom foot (n=5), sandal gap deformity (n=1), curly toe (n=2)]; amniotic band syndrome (n=3); and anomalies of the focal spine [block vertebra (n=1), hemivertebra (n=1)]. Among these 50 cases, five [polydactyly (n=1), syndactyly (n=2) and curly toe (n=2)] were confirmed by postnatal physical evaluation, two (focal spine anomalies) were diagnosed after postnatal radiologic examination, and the remaining 43 were proven at autopsy.
For each condition, we describe the prenatal sonographic findings, and include a brief review.
PMCID: PMC2698103  PMID: 14726642
Fetus, abnormalities; Fetus, US; Fetus, skeletal system
15.  A Unique Case of Left Second Supernumerary and Left Third Bifid Intrathoracic Ribs with Block Vertebrae and Hypoplastic Left Lung 
Case Reports in Radiology  2013;2013:620120.
Intrathoracic rib (IR) is a very rare anomaly in which a normal, an accessory, or a bifid rib lies within the chest cavity and may originate from a vertebra or a rib. It is more commonly present on the right side, and sometimes it may be associated with vertebral anomalies. Only 50 cases have been reported to date in the literature. In most cases, the IR is an isolated finding; it is incidentally detected and is asymptomatic. The IR can be easily missed on a chest radiograph and can be mistaken initially for a pleural lesion, lung consolidation, other peripheral lung parenchymal lesions, or a bony lesion. It is, therefore, essential for physicians and radiologists to know about this entity and consider it in the differential diagnosis, to avoid further evaluation and unnecessary investigations. We present a unique case of three intrathoracic ribs, a left second supernumerary rib, left third depressed normonumerary rib, and bifid arm of the left third rib, with block vertebrae and hypoplastic left lung. To our knowledge, this is the first such case presentation in the published literature.
PMCID: PMC3876714  PMID: 24416613
16.  Abscess of urachal remnants presenting with acute abdomen: a case series 
Urachal diseases are rare and may develop from a congenital anomaly in which a persistent or partial reopening of the fetal communication between the bladder and the umbilicus persists. The most frequently reported urachal anomalies in adults are infected urachal cyst and urachal carcinoma. The diagnosis of this entity is not always easy because of the rarity of these diseases and the atypical symptoms at presentation. Imaging techniques, such as ultrasonography and computed tomography have a significant role in recognizing the presence of urachus-derived lesions.
Cases presentations
Case presentation 1: A 25-year-old Arab-Berber man presented with a 10-day history of progressive lower abdominal pain accompanied by fever, vomiting, and low urinary tract symptoms to our emergency department. Laboratory data revealed leucocytosis. The diagnosis of an acute peritonitis was made initially. Abdominal ultrasonography revealed a hypoechoic tract from the umbilicus to the abdominal wall, and the diagnosis was rectified (infected urachal remnants). The patient was initially treated with intravenous antibiotics in combination with a percutaneous drainage. Afterwards an extraperitoneal excision of the urachal remnant including a cuff of bladder was performed. The histological analysis did not reveal a tumor of the urachal remnant. Follow-up examinations a few months later showed no abnormality.
Case presentation 2: A 35-year-old Arab-Berber man, without prior medical history with one week of abdominal pain, nausea and vomiting, associated with fever but without lower urinary tract symptoms visited our emergency department. Laboratory data revealed leucocytosis. Abdominal ultrasonography was not conclusive. Computed tomography of the abdomen was the key to the investigation and the diagnosis of an abscess of urachal remnants was made. The patient underwent the same choice of medical-surgical treatment as previously described for case one, with a good follow-up result.
Case presentation 3: A 22-year-old Arab-Berber man, with no relevant past medical history, presented to our emergency department because of suspected acute surgical abdomen. Physical examination revealed umbilical discharge with erythema and a tender umbilical mass. Abdominal ultrasonography and computed tomography scan confirmed the diagnosis of infected urachal sinus. Initial management was intravenous antibiotics associated with a percutaneous drainage with a good post-operative result, but a few days later, he was readmitted with the same complaint and the decision was made for surgical treatment consisting of excision of the infected urachal sinus. The clinical course was uneventful. Histological examination did not reveal any signs of malignancy.
We describe our clinical observations and an analysis of the existing literature to present the various clinical, radiological, pathological and therapeutic aspects of an abscess of urachal remnants. To the best of our knowledge, this manuscript is an original case report because this atypical presentation is rarely reported in the literature and only a few cases have been described.
PMCID: PMC3459711  PMID: 22846644
Urachus; Bladder; Neoplasms; Urachal cyst; Urachal remnant; Urachal sinus; Abcess
17.  Familial testicular germ cell tumor: no associated syndromic pattern identified 
Testicular germ cell tumor (TGCT) is the most common malignancy in young men. Familial clustering, epidemiologic evidence of increased risk with family or personal history, and the association of TGCT with genitourinary (GU) tract anomalies have suggested an underlying genetic predisposition. Linkage data have not identified a rare, highly-penetrant, single gene in familial TGCT (FTGCT) cases. Based on its association with congenital GU tract anomalies and suggestions that there is an intrauterine origin to TGCT, we hypothesized the existence of unrecognized dysmorphic features in FTGCT.
We evaluated 38 FTGCT individuals and 41 first-degree relatives from 22 multiple-case families with detailed dysmorphology examinations, physician-based medical history and physical examination, laboratory testing, and genitourinary imaging studies.
The prevalence of major abnormalities and minor variants did not significantly differ between either FTGCT individuals or their first-degree relatives when compared with normal population controls, except for tall stature, macrocephaly, flat midface, and retro-/micrognathia. However, these four traits were not manifest as a constellation of features in any one individual or family. We did detect an excess prevalence of the genitourinary anomalies cryptorchidism and congenital inguinal hernia in our population, as previously described in sporadic TGCT, but no congenital renal, retroperitoneal or mediastinal anomalies were detected.
Overall, our study did not identify a constellation of dysmorphic features in FTGCT individuals, which is consistent with results of genetic studies suggesting that multiple low-penetrance genes are likely responsible for FTGCT susceptibility.
PMCID: PMC3937045  PMID: 24559313
Familial testicular cancer; Dysmorphology; Developmental anomalies
18.  Human Alveolar Echinococcosis in Poland: 1990–2011 
Alveolar echinococcosis (AE) caused by Echinococcus multilocularis infections is a dangerous old disease in the Northern Hemisphere. The aim of the paper was to collect and analyze data on human AE in Poland in the last two decades.
Methodology/Principal Findings
The sources of data were both the cases officially registered and detected by an active field and laboratory surveillance. The cases were verified by clinical, epidemiological, and laboratory criteria. Altogether 121 human cases of AE were detected. Among these 83 (68,6%) cases were classified as confirmed, 16 as probable and 22 as possible. During the two decades a continuous increase in detection rate was noticed. The cases were 6–82 years old at the time of diagnosis (mean - 47.7 years). Sex ratio M/F was 0.86/1.0. The AE was fatal in 23 (19%) patients (mean age at death - 54.1 years). Family agglomeration of AE was found in 4 foci, involving 9 patients. Seventy six of the cases were diagnosed in an advanced stage of disease. In all cases the liver was the primary location of AE. In 30 (24.8%) patients a spread to other organs was observed. Ninety four of the patients were treated with albendazole. In 73 (60%) patients a surgical operation was performed, including 15 liver transplantations.
The studies confirmed that AE is an emerging disease in Poland, which is the fourth country in Europe with over 120 cases detected. The results also indicate the need of a wider national programme for implementation of screening in the highest AE risk areas (north-eastern Poland) with an effort to increase the public awareness of the possibility of contracting E. multilocularis, and above all, training of the primary care physicians in the recognition of the risk of AE to allow for an early detection of this dangerous disease.
Author Summary
Human alveolar echinococcosis (AE) is a consequence of accidental ingestion of the eggs of the tapeworm Echinococcus multilocularis. AE constitutes a serious and increasing medical and epidemiological problem in many countries including Poland. The natural environments with a high AE prevalence are the areas where the definitive hosts (foxes, raccoons) and the intermediate hosts (rodents) live. The increasing population of infected foxes that penetrate nearby the village and urban buildings and infected dogs poses a certain risk to human health. This report is a joint clinical and epidemiological analysis of 121 AE cases recorded in the years 1990–2011 in Poland. The highest percentage of E. multilocularis infected foxes in the north-eastern regions of Poland (about 40% of the examined population infected) bears a clear-cut relation to the highest incidence of detected AE human cases in those areas. An epidemiological and clinical survey of the local population conducted for over a dozen years has contributed to the discovery of several new AE cases. Alveolar echinococcosis in humans caused by Echinococcus multilocularis infection belongs to the emerging diseases in Poland where a continuous increase in the detection rate was noticed during the last two decades.
PMCID: PMC3536814  PMID: 23301116
19.  Nuclear Pedigree Criteria of Suspected HNPCC 
The criteria for the diagnosis of HNPCC established by the ICG-HNPCC are very restrictive as they do not allow for the diagnosis of a large number of "suspected HNPCC" cases - these are families which do no fulfill the strict diagnostic "Amsterdam criteria", but do present with several pedigree and clinical features characteristic for HNPCC. Several series of families suspected of harboring germline mutations in DNA mismatch repair genes have been studied for germline changes in DNA mismatch repair genes and a mutation rate of somewhere between 8-60% was found. Therefore a subgroup of members of the ICG-HNPCC has been working on pedigree/clinical diagnostic criteria for suspected HNPCC.
Materials and methods
Part I
The study was based on two series of colorectal cancer (CRC) cases: 1) HNPCC - this group comprised 190 patients affected by CRC from randomly selected families which fulfilled the Amsterdam II criteria registered in Düsseldorf, Germany (102 cases of CRC), Denmark (18 CRCs), Leiden, Holland (23 CRCs) and Szczecin, Poland (47 CRCs). 2) Consecutive CRCs - this group comprised 629 (78.0%) of 806 individuals with CRC diagnosed in 1991-1997 in the city of Szczecin (ca. 400,000 of inhabitants), Poland. Nuclear pedigrees in both groups were compared for frequency of occurrence of clinical features, that have been shown to be associated with HNPCC.
Part II
52 consecutive CRC cases from Szczecin, matching the criteria recognized in part I as appropriate for diagnosis of cases "suspected of HNPCC" were studied for the occurrence of germline hMSH2/hMLH1 constitutional mutations using "exon by exon" sequencing.
The combination of features - i.e. the occurrence of an HNPCC associated cancer (CRC or cancer of the endometrium, small bowel or urinary tract) in a 1st degree relative of a CRC patient; at least one of the patients being diagnosed under age of 50 - appeared to be strongly associated to HNPCC with an OR - 161. Constitutional mutations were identified in 18 (10 MLH1 and 8 MSH2 mutations) of 52 (34%) cases matching the above features.
The results of our studies strongly suggest that it is possible to diagnose HNPCC with a high degree of accuracy on the basis of nuclear pedigree data and clinical features.
PMCID: PMC2840011
HNPCC; diagnosis
20.  A prospective observational study of associated anomalies in Hirschsprung’s disease 
Associated anomalies have been reported in around 20% of Hirschsprung patients but many Authors suggested a measure of underestimation. We therefore implemented a prospective observational study on 106 consecutive HSCR patients aimed at defining the percentage of associated anomalies and implementing a personalized and up-to-date diagnostic algorithm.
After Institutional Ethical Committee approval, 106 consecutive Hirschsprung patients admitted to our Institution between January 2010 and December 2012 were included. All families were asked to sign a specific Informed Consent form and in case of acceptance each patient underwent an advanced diagnostic algorithm, including renal ultrasound scan (US), cardiologic assessment with cardiac US, cerebral US, audiometry, ENT and ophthalmologic assessments plus further specialist evaluations based on specific clinical features.
Male to female ratio of our series of patients was 3,4:1. Aganglionosis was confined to the rectosigmoid colon (classic forms) in 74,5% of cases. We detected 112 associated anomalies in 61 (57,5%) patients. The percentage did not significantly differ according to gender or length of aganglionosis. Overall, 43,4% of patients complained ophthalmologic issues (mostly refraction anomalies), 9,4% visual impairment, 20,7% congenital anomalies of the kidney and urinary tract, 4,7% congenital heart disease, 4,7% hearing impairment or deafness, 2,3% central nervous system anomalies, 8,5% chromosomal abnormalities or syndromes and 12,3% other associated anomalies.
Our study confirmed the underestimation of certain associated anomalies in Hirschsprung patients, such as hearing impairment and congenital anomalies of the kidney and urinary tract. Subsequently, based on our results we strongly suggest performing renal US and audiometry in all patients. Conversely, ophthalmologic assessment and cerebral and heart US can be performed according to guidelines applied to the general population or in case of patients with suspected clinical features or chromosomal abnormalities. This updated diagnostic algorithm aims at improving overall outcome thanks to better prognostic expectations, prevention strategies and early rehabilitation modalities. The investigation of genetic background of patients with associated anomalies might be the next step to explore this intriguing multifactorial congenital disease.
PMCID: PMC4222065  PMID: 24267509
Hirschsprung; Phenotype; Observational study; Associated anomalies
21.  Unilateral pulmonary artery agenesis: a case series 
Hippokratia  2013;17(1):73-76.
Background: Unilateral pulmonary artery agenesis (UPAA) is a rare congenital anomaly due to a malformation of the sixth aortic arch of the affected side during embryogenesis. The diagnosis is usually set at adolescence, however it can remain asymptomatic and late diagnosis is possible.
Description: We present a case series of three female patients, aged 18, 49 and 68 years old, with history of recurrent respiratory tract infections, to whom the diagnosis of UPAA was set. They were admitted, due to hemoptysis and productive cough (case 1) or progressive dyspnea on exertion (cases 2 and 3). Chest X-ray was abnormal in all three cases, depicting shift of the mediastinal structures to the left and hypoplasia of the left lung while chest CT demonstrated absence of the left pulmonary artery.
Conclusion: UPAA can remain asymptomatic and diagnosis in adult age is possible, usually after an abnormal chest radiograph. A number of additional imaging techniques are available to aid the diagnosis. Physicians should consider the possibility of undiagnosed UPAA in adults.
PMCID: PMC3738284  PMID: 23935349
Unilateral pulmonary artery agenesis; bronchiectasis; hemoptysis
22.  The ESHRE/ESGE consensus on the classification of female genital tract congenital anomalies†,‡ 
Human Reproduction (Oxford, England)  2013;28(8):2032-2044.
What classification system is more suitable for the accurate, clear, simple and related to the clinical management categorization of female genital anomalies?
The new ESHRE/ESGE classification system of female genital anomalies is presented.
Congenital malformations of the female genital tract are common miscellaneous deviations from normal anatomy with health and reproductive consequences. Until now, three systems have been proposed for their categorization but all of them are associated with serious limitations.
The European Society of Human Reproduction and Embryology (ESHRE) and the European Society for Gynaecological Endoscopy (ESGE) have established a common Working Group, under the name CONUTA (CONgenital UTerine Anomalies), with the goal of developing a new updated classification system. A scientific committee (SC) has been appointed to run the project, looking also for consensus within the scientists working in the field.
The new system is designed and developed based on (i) scientific research through critical review of current proposals and preparation of an initial proposal for discussion between the experts, (ii) consensus measurement among the experts through the use of the DELPHI procedure and (iii) consensus development by the SC, taking into account the results of the DELPHI procedure and the comments of the experts. Almost 90 participants took part in the process of development of the ESHRE/ESGE classification system, contributing with their structured answers and comments.
The ESHRE/ESGE classification system is based on anatomy. Anomalies are classified into the following main classes, expressing uterine anatomical deviations deriving from the same embryological origin: U0, normal uterus; U1, dysmorphic uterus; U2, septate uterus; U3, bicorporeal uterus; U4, hemi-uterus; U5, aplastic uterus; U6, for still unclassified cases. Main classes have been divided into sub-classes expressing anatomical varieties with clinical significance. Cervical and vaginal anomalies are classified independently into sub-classes having clinical significance.
The ESHRE/ESGE classification of female genital anomalies seems to fulfill the expectations and the needs of the experts in the field, but its clinical value needs to be proved in everyday practice.
The ESHRE/ESGE classification system of female genital anomalies could be used as a starting point for the development of guidelines for their diagnosis and treatment.
PMCID: PMC3712660  PMID: 23771171
female tract; classification system; anatomy
23.  The ESHRE–ESGE consensus on the classification of female genital tract congenital anomalies 
Gynecological Surgery  2013;10(3):199-212.
The new ESHRE/ESGE classification system of female genital anomalies is presented, aiming to provide a more suitable classification system for the accurate, clear, correlated with clinical management and simple categorization of female genital anomalies. Congenital malformations of the female genital tract are common miscellaneous deviations from normal anatomy with health and reproductive consequences. Until now, three systems have been proposed for their categorization, but all of them are associated with serious limitations. The European Society of Human Reproduction and Embryology (ESHRE) and the European Society for Gynaecological Endoscopy (ESGE) have established a common Working Group, under the name CONUTA (CONgenital UTerine Anomalies), with the goal of developing a new updated classification system. A scientific committee has been appointed to run the project, looking also for consensus within the scientists working in the field. The new system is designed and developed based on: (1) scientific research through critical review of current proposals and preparation of an initial proposal for discussion between the experts, (2) consensus measurement among the experts through the use of the DELPHI procedure and (3) consensus development by the scientific committee, taking into account the results of the DELPHI procedure and the comments of the experts. Almost 90 participants took part in the process of development of the ESHRE/ESGE classification system, contributing with their structured answers and comments. The ESHRE/ESGE classification system is based on anatomy. Anomalies are classified into the following main classes, expressing uterine anatomical deviations deriving from the same embryological origin: U0, normal uterus; U1, dysmorphic uterus; U2, septate uterus; U3, bicorporeal uterus; U4, hemi-uterus; U5, aplastic uterus; U6, for still unclassified cases. Main classes have been divided into sub-classes expressing anatomical varieties with clinical significance. Cervical and vaginal anomalies are classified independently into sub-classes having clinical significance. The ESHRE/ESGE classification of female genital anomalies seems to fulfil the expectations and the needs of the experts in the field, but its clinical value needs to be proved in everyday practice. The ESHRE/ESGE classification system of female genital anomalies could be used as a starting point for the development of guidelines for their diagnosis and treatment.
PMCID: PMC3718988  PMID: 23894234
ESHRE; ESGE; Female genital tract congenital anomalies; ESHRE/ESGE classification system; DELPHI procedure
24.  Congenital Absence of Flexor Pollicis Longus Tendon Without Associated Anomalies of Thumb Hypoplasia: A Case Report and Review of the Literature 
Hand (New York, N.Y.)  2007;2(4):184-187.
In this paper, we report a case of a 14-year-old girl with congenital aplasia of the flexor pollicis longus tendon who had no other associated anomalies of thumb hypoplasia and no trauma history. Flexor pollicis longus tendon anomalies are rare; several types of this congenital anomaly have been reported in the literature. The diagnosis should be considered if a patient is unable to flex the interphalangeal joint of the thumb. A hypoplastic thumb or an absent interphalangeal joint crease may be a diagnostic feature in such cases. Besides physical examination, we also used direct radiography and magnetic resonance imaging to diagnose this rare congenital anomaly in our patient.
PMCID: PMC2527226  PMID: 18780050
Hand; Thumb hypoplasia; Flexor pollicis longus tendon aplasia
25.  Selected Aspects of Molecular Diagnostics of Constitutional Alterations in BRCA1 and BRCA2 Genes Associated with Increased Risk of Breast Cancer in the Polish Population 
This study was undertaken to determine: 1) Type and prevalence of founder mutations BRCA1 and BRCA2 genes in Polish families with strong aggregation of breast and/or ovarian cancer. 2) Risk of breast and/or ovarian cancer depending on type of BRCA1 gene mutation. 3) Prevalence of BRCA1 mutation and of other alleles presumably linked with predisposition to breast cancer in unselected Polish patients with breast cancer. 4) Risk of breast cancer in patients with 5972C/T polymorphism that alters the BRCA2 protein structure.
Summary of the results
1. Among 66 families from several regions in Poland with a strong aggregation of breast/ovarian cancer, founder mutation of the BRCA1 gene were disclosed in 34 families and of the BRCA2 gene in on family. Altogether, seven different mutations were disclosed. Five mutations were found in at least two families in this group. The most frequent mutation was 5382insC (18 families), followed by C61G (7 families) and 4153delA (4 families). 2. Among 200 families representative for Poland with strong aggregation of breast/ovarian cancer, mutation of the BRCA1 gene were found in 122 families (61%) and of the BRCA2 gene in seven families (3,5%). 119 out of 122 mutations of the BRCA1 gene (97,5%) were repeatable. Three recurrent mutations of the BRCA1 gene (5382insC, C61G, 4153delA) characteristic for the Polish population were disclosed in 111 families representing 86% of all pathogenic sequences of this gene. 3. The risk of ovarian cancer in carriers of the three most frequent recurrent mutation of the BRCA1 gene in Poland is similar (OR 43.6 for 5382insC and 50 for 4153delA). The risk of breast cancer is significantly different for 4153delA (OR 1) and for other mutations (OR 10.9). 4. Among 2012 unselected breast cancers diagnosed in hospitals of nine Polish cities, mutations of the BRCA1 gene (5382insC, C61G, 4153delA) were disclosed in 2.9% patients. CHEK2 alternation (1100delC, IVS2+1G>A, I157T) was discovered in 8.1% and NBS1 mutation (657del5) in 0.8% of the patients. The changes were more frequent in the study than the control group. However, the risk of breast cancer was significantly higher for only three of them. Two changes, namely 5382insC and C61G of the BRCA1 gene revealed a high penetrance (OR 6.2 and 15.0, respectively), while I157T of the CHEK2 gene was associated with a low risk of breast cancer (OR 1.4). Mutations of the BRCA1, CHEK2 and NSB1 genes were significantly more frequent in patients with breast cancer diagnosed prior to 50 years of age. The mean age at diagnosis was 47.2 years for carriers of the BRCA1 mutation, 50.7 years for NBS1 and 54.2 for CHEK2. The mean age at diagnosis in the group of patients without any if the mutations described above was 56.1 years. When breast cancer patients with the diagnosis before and after 50 years of age were compared, the greatest difference in the frequency of mutation was revealed for the BRCA1 gene (5.5% vs 1.5%).
BRCA1 mutations were significantly more frequent I familial aggregates of the tumor (10.8%), but were also present in sporadic cases (1.8%). For the CHEK2 and NBS1 genes, there was no correlation between frequency and family history of cancer in probands. 5. A higher frequency of heterozygous carriers of 5972C/T polymorphism of the BRCA2 gene was demonstrated for breast cancer prior to 50 years of age (OR 1.4). the risk of breast cancer prior to 50 years of age was particularly high in 5972T/T homozygote (OR 4.7). This polymorphism was associated with breast cancer notable for intraductal growth.
1. Efficient molecular diagnostics of genetic predisposition to breast/ovarian cancer in Poland could be based on relatively simple tests disclosing some of the most frequent recurrent mutations of the BRCA1 gene. 2. The risk of breast cancer seems to be only slightly higher in carriers of some BRCA1 gene mutations. This finding should be taken into account during work on prevention schemes for carriers of the BRCA1 mutations. 3. 5382insC and C61G mutations of the BRCA1 gene are linked with high risk of breast cancer. Changes in the CHEK2 and NBS1 genes appear to be linked with a higher risk of breast cancers, particularly at young age. However, penetrance in this case is low. All patients with breast cancer should be tested for BRCA1 gene mutations because the percentage of mutations is also high in patients older than 50 years of age or without familiar aggregation of breast/ovarian cancer. 4. Polymorphic changes in the BRCA2 gene sequence previously regarded as non-pathogenic may nevertheless predispose, homozygotes in particular, to breast cancer. Apparently, the recessive character of these changes is responsible for the negative family history in most cases. The use of DNA tests is the only way to disclose increased risk of breast cancer in carriers of the 5972T/T mutation.
PMCID: PMC4177211  PMID: 20223018
breast cancer; ovarian cancer; inherited predisposition; BRCA1; BRCA2

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