Thoracic endometriosis syndrome is a well-described, rare manifestation of endometriosis. We present a case of a 35-year old woman undergoing controlled ovarian stimulation prior to in vitro fertilization (IVF) who developed bilateral hemorrhagic pleural effusions. She was initially diagnosed with ovarian hyperstimulation syndrome, a complication of infertility therapy; however, she ...

Thymomas are associated with paraneoplastic autoimmune diseases at a high frequency. It is rare that four paraneoplastic autoimmune disorders co-occur in a single patient. We describe a thymoma patient with diagnoses of myasthenia gravis, vitiligo, alopecia areata, and oral lichen planus associated with a thymoma. After thymectomy, the weakness, vitiligo, ...

INTRODUCTION: We present a fetus whose characteristics most likely represent Roberts syndrome. CASE REPORT: Prenatal diagnosis at 21 weeks and 1 day age of gestation was made employing conventional two-dimensional (2D) sonography, showing shortened upper and lower extremities. An umbilical cord cyst was also noted. Three-dimensional (3D) sonography revealed additional abnormalities which ...

Congenital heart defects (CHDs) occur in 1% of live-born infants and frequently are associated with extracardiac malformations. This study aimed to assess the feasibility and accuracy of three-dimensional ultrasonography (3DUS) in fetuses with CHD and to investigate whether 3DUS can add information about the heart and general fetal morphology that ...

Abstract Objective. To describe the characteristics and outcome of fetuses with Turner syndrome reported to a national congenital anomalies register. Methods. All cases with a diagnosis of Turner syndrome reported to Congenital Anomaly Register and Information Service for Wales (CARIS) between 1 January 1998 and 31 December 2007 were included. The cases ...

Objective. To elucidate the significance of isolated absent or hypoplastic nasal bone in the second trimester ultrasound scan. Methods. All cases of absent or hypoplastic nasal bone (length < 5th percentile) encountered during 2007-2009 were retrieved from database and all the ultrasound findings including structural abnormalities and soft markers for Down syndrome and fetal ...

To describe the characteristic of tongue images of patients with lung cancer of different Chinese medicine (CM) syndromes and to reveal the elemental rule on the changes of the tongue images. A total of 207 patients with lung cancer were divided into four syndrome groups according to the theory of ...

Goldston syndrome is a rare entity describing the association of polycystic kidneys and Dandy Walker malformation with or without hepatic fibrosis. A 28 years old pregnant woman came to radiology department for the first antenatal scan. Ultrasound showed a single fetus corresponding to 27 week of gestation. The fetal brain ...

Objective- Twin-twin transfusion syndrome complicates up to 15% of monochorionic diamniotic gestations. Current recommendations for sonographic surveillance in monochorionic diamniotic pregnancies for detection of twin-twin transfusion syndrome vary. Our objective was to determine an appropriate frequency of sonographic surveillance to optimize detection of twin-twin transfusion syndrome in monochorionic diamniotic gestations. ...

OBJECTIVE: To identify and describe voice, speech and swallowing abnormalities in patients with Sjögren's Syndrome (SS). MATERIALS AND METHODS: This was a prospective cross-sectional descriptive observational study. Patients with SS were interviewed and physically explored. Nasolaryngeal endoscopy, video laryngeal stroboscopy, fiberoptic endoscopic evaluation of swallowing and computerized voice spectrographic analysis ...

Many human syndromes involve a loss of imprinting (LOI) due to a loss (LOM) or a gain of DNA methylation (GOM). Most LOI occur as mosaics and can therefore be difficult to detect with conventional methods. The human imprinted 11p15 region is crucial for the control of fetal growth, and ...

We report the prenatal sonographic diagnosis of hydrometrocolpos caused by an imperforate hymen in a Down syndrome fetus, with spontaneous evacuation on the third day of life. In this case, sonographic evaluation in the 37th week revealed a large retrovesical, sharply marginated, heterogeneous, unilocular cystic structure within the fetal abdomen ...

We report the prenatal sonographic diagnosis of hydrometrocolpos caused by an imperforate hymen in a Down syndrome fetus, with spontaneous evacuation on the third day of life. In this case, sonographic evaluation in the 37th week revealed a large retrovesical, sharply marginated, heterogeneous, unilocular cystic structure within the fetal abdomen ...

As a first step to identify novel potential biomarkers for prenatal Down Syndrome screening, we analyzed gene expression in embryos of wild type mice and the Down Syndrome model Ts1Cje. Since current Down Syndrome screening markers are derived from placenta and fetal liver, these tissues were chosen as target. Placenta ...

Klippel-Feil syndrome is believed to occur from failure of normal segmentation of cervical somites during gestation. We present the case of a 38-year-old primiparous woman with type III Klippel-Feil syndrome for elective cesarean delivery. Our patient had a short webbed neck, short stature, limited neck flexion and extension, and thoraco-lumbar ...

Maternal transfer of heavy metals during fetal development or lactation possibly contributed to the clinical manifestations of Bartter syndrome and developmental delay in the offspring. An 11-month-old child diagnosed with Bartter syndrome and failure to thrive was treated concurrently for elevated metal burden while he was undergoing standard medical interventions. ...

Many human syndromes involve a loss of imprinting (LOI) due to a loss (LOM) or a gain of methylation (GOM). Most LOI occur as mosaics and can therefore be difficult to detect with conventional methods. The human imprinted 11p15 region is crucial for the control of fetal growth and LOI ...

Many adolescents and adults with Down syndrome have reduced speech intelligibility. Reasons for this reduction may relate to differences in anatomy and physiology, both of which are important for creating an intelligible speech signal. The purpose of this study was to document acoustic vowel space and articulatory working space for ...

We report on the occurrence of congenital diaphragmatic hernia in a family with craniofrontonasal syndrome found to have a previously unreported mutation in EFNB1. The female proband presented with hypertelorism, telecanthus, bifid nasal tip, widow's peak, frontal bossing, and a widened metopic suture. Her father was noted to have hypertelorism, ...

Shoulder-hand syndrome is a reflex sympathetic dystrophy which is usually associated with minor trauma, fracture or surgical procedures on bones, or follows peripheral nerve injury. In the present report, we describe a patient who developed sympathetic dystrophy which revealed a lung cancer. Reflex sympathetic dystrophy, therefore, should be considered an ...

Pediatric cases of Spigelian hernias are rare. Only a few reports on this condition, in combination with ipsilateral cryptorchidism and testis in the hernia sac, have been published. We report on Spigelian hernia in a 3-week-old boy containing both the ipsilateral testis, without a gubernaculum and an incarcerated loop of ...

The presence of both of the testes in one scrotal sac is one of the very rare presentations of testicular ectopia, which is known as transverse testicular ectopia (TTE) and is also known as crossed testicular ectopia. The presence of the uterus and fallopian tubes in a normally virilized male ...

We previously reported the association of ABCB4/MDR3 gene variants with a peculiar form of cholelithiasis in European adults, currently referred to as the LPAC syndrome. ABCB4/MDR3 deficiency is also now thought to be related to some forms of hepatolithiasis in Japan. We herein report in eight patients a new phenotype ...

We report a case of a 22-year-old male with Down syndrome and Morgagni hernia, who presented to us with complaints of cough, regurgitation and vomiting. He was successfully treated surgically and the defect was repaired with prolene mesh.

Persistent Müllerian duct syndrome (PMDS) with seminoma, hernia uterine inguinale, and transverse testicular ectopia is rare. A 41-year-old phenotypic man with 46 XY karyotype was admitted with nonpainful bulging mass in the left inguinoscrotal region. Two distinct masses were identified by sonography and computed tomography. No testis was apparent on ...

Al-Awadi/Raas-Rothschild (AARR) syndrome is a rare phocomelia syndrome characterized by limb/pelvic hypoplasia/aplasia, renal anomalies such as horseshoe and polycystic kidney, and abnormal facial features including cleft palate, hypertelorism and micro-retrognatia. Autosomal recessive inheritance has been proposed for AARR syndrome. In this report a boy affected with AARR syndrome is presented. ...

Lumbocostovertebral syndrome is the association of a congenital lumbar hernia with rib and vertebral anomalies. We report the first case of a laparoscopic repair of a lumbar hernia in a child with lumbocostovertebral syndrome. Laparoscopic lumbar hernia repair appears to be safe and feasible in children.

Persistent Mullerian duct syndrome (PMDS) is a rare form of internal male pseudohermaphroditism in which Mullerian duct derivatives are seen in a male patient. This syndrome is characterized by the persistence of Mullerian duct derivatives (i.e. uterus, cervix, fallopian tubes and upper two thirds of vagina) in a phenotypically and ...

We report a case of fused testes in a patient with transverse testicular ectopia and persistent Mullerian duct syndrome. A laparoscopy performed to confirm the diagnosis showed a single vas deferens on the left side. Treatment included excision of the Mullerian remnant through a left inguinal incision and orchidopexy of ...

Congenital diaphragmatic hernia is known to be associated with esophageal atresia, which is a rare association. We report a rare occurrence of congenital diaphragmatic hernia and lower esophageal atresia.

Monochorionic monoamniotic twin gestations have been associated with perinatal mortality rates as high as 28% to 47%. Umbilical cord entanglements and knots, twin-to-twin transfusion syndrome, congenital anomalies, prematurity and intertwin locking during labor are responsible for their high perinatal morbidity and mortality. We report here two cases of cord entanglements: ...

We describe a neonate in whom a right congenital diaphragmatic hernia and an anorectal malformation coexisted. Their coexistence in the same patient is rare.

Vanishing bile duct syndrome is a severe cholestatic disease associated with toxic effects of medications. Stevens-Johnson syndrome is a hypersensitivity disorder that may also be caused by medications. We present a case of a 62-year-old male patient who developed vanishing bile duct syndrome a month after Stevens-Johnson syndrome. These adverse ...

The term postcholecystectomy syndrome (PCS) comprises a heterogeneous group of symptoms and findings in patients who have previously undergone cholecystectomy. Although rare, these patients may present with abdominal pain, jaundice or dyspeptic symptoms. Many of these complaints can be attributed to complications including bile duct injury, biliary leak, biliary fistula ...

Jarcho-Levin syndrome is characterized by short trunk dwarfism associated with rib and vertebral anomalies. The syndrome encompasses a group of disorders with phenotypic and inheritance variations. Here we report a prenatally diagnosed patient with spondylocostal dysostosis (SCD) with accompanying congenital inguinoscrotal hernia. A 28-year-old pregnant women, gravida 4, para 3, ...

We describe a female infant with a diaphragmatic hernia and nasopharyngeal teratoma. The case is compared with two previous reports of this combination of features. We suggest that this can no longer be considered a random association but instead represents the emergence of a distinct syndrome of which this case ...

A global evidence-based consensus has defined gastroesophageal reflux disease (GERD) as 'a condition, which develops when the reflux of stomach contents causes troublesome symptoms and/or complications.' The manifestations of GERD can be divided into esophageal and extraesophageal syndromes, and include vomiting, poor weight gain, dysphagia, abdominal or substernal/retrosternal pain, esophagitis ...

A 62-year-old male presented with a history of upper abdominal discomfort. Past history included asymptomatic gallstones. Abdominal ultrasound and CT demonstrated gallstones within a thick-walled gallbladder, and intra and extrahepatic duct dilatation. Endoscopic retrograde cholangiopancreatography (ERCP) revealed a stricture within the mid-portion of the common bile duct. At laparotomy, a ...

Hyper IgE Syndrome (HIES) is a rare multi system genetic immunodeficiency disorder, with immunological and non-immunological features. Immunolgical features are 1) Recurrent cutaneous abscesses, 2) Atopic dermatitis like lesions, 3) Sino pulmonary infections, 4) Elevated serum IgE levels and 5) Abnormal neutrophil chemotaxis. Non immunological features include cranio facial and ...

We report on a 70-year-old male who was admitted to hospital due to progressive onset of dyspnea and fever. Diagnostic work-up revealed a high diaphragmatic position, compression of the right heart and supraventricular tachycardia. A simultaneous incidental finding was hepatodiaphragmatic colonic interposition (Chilaiditi's syndrome). Diaphragmatic plication through a right thoracotomy ...

Persistent Müllerian duct syndrome (PMDS) is a rare form of male pseudohermaphroditism, characterized by the presence of a uterus and fallopian tubes owing to failure of Müllerian duct regression in genotypically normal males. More than 150 cases have been recorded, most of them in adults. The association between a persistent ...

Persistent Mullerian Duct Syndrome (PMDS), a rare form of male pseudohermaphroditism, is characterized by the persistence of Mullerian duct structures (uterus, fallopian tubes and upper two-thirds of vagina) in otherwise normallyvirilized males (Karyotype 46XY). Patients suffering from PMDS present with cryptorchidism, inguinal hernia and infertility. Diagnosis is established when Mullerian ...

Cough can be an extraesophageal manifestation of gastroesophageal reflux disease. This article summarizes recent progress in our understanding of the pathophysiology, diagnosis, and treatment of the reflux cough syndrome. Recent studies have provided further evidence for a role of weakly acidic gastroesophageal reflux in inducing cough. It has also been ...

We present a search for direct CP violation in B(+/-)-->J/psiK(+/-)(pi(+/-)) decays. The event sample is selected from 2.8 fb(-1) of pp collisions recorded by D0 experiment in run II of the Fermilab Tevatron Collider. The charge asymmetry A_(CP)(B(+)-->J/psiK(+))= + 0.0075 +/- 0.0061(stat)+/-0.0030(syst) is obtained using a sample of approximately 40, ...

The Australian funnel-web spider, arguably the most venomous spider in the world, is distributed along the Australian eastern seaboard, typically preferring moist, cool, sheltered habitats such as rainforests. Prior surveys around Brisbane have only ever demonstrated funnel-web spiders in the outskirts of the city contiguous with bushland or native rainforest. ...

BACKGROUND: Alagille syndrome is a developmental disorder caused predominantly by mutations in the Jagged1 (JAG1) gene, which encodes a ligand for Notch family receptors. A characteristic feature of Alagille syndrome is intrahepatic bile duct paucity. We described previously that mice doubly heterozygous for Jag1 and Notch2 mutations are an excellent ...

Congenital lumbar hernia is rare in infancy and childhood, and its association with the lumbocostovertebral syndrome is even more unusual. Only 20 cases have been reported in the English literature. We present the case of a child with multiple costovertebral anomalies, undescended testis, and lateral abdominal wall hernia that is ...

BACKGROUND: The finding of persistent mullerian duct syndrome (PMDS) with transverse testicular ectopia (TTE) is rare. We present nonidentical triplets with PMDS with TTE. CASES: Triplet A presented with a right inguinal hernia and left nonpalpable testis at 4 months of age. Ultrasound demonstrated 1 testis in the right hemiscrotum. ...

Mirizzi syndrome is a rare complication of gallstone disease, and results in partial obstruction of the common bile duct or a cholecystobiliary fistula. Moreover, congenital anatomical variants of the cystic duct are common, occurring in 18%-23% of cases, but Mirizzi syndrome underlying an anomalous cystic duct is an important clinical ...

BACKGROUND: The aim of the study was an evaluation of the influence of coexisting degenerative changes on surgical outcomes on patients with lumbar disc hernias (DH). MATERIAL AND METHODS: A total of randomly selected 132 patients undergoing surgery for DH (classic discectomy with fenestration of the yellow ligament) were examined. ...