Background: Conductive hyperacusis in superior semicircular canal dehiscence syndrome occurs due to the presence of a 'third window' created by the dehiscence. Reversible blocking of the round window can, in theory, cause a reduction in the compression-related volume displacement, and thereby minimise symptoms of conductive hyperacusis. This study describes a ...

Operative intervention for recalcitrant carpal tunnel syndrome often utilizes local vascularized tissue to provide coverage of the median nerve in an attempt to limit scarring or adherence of the nerve to its surrounding structures. Although the hypothenar fat pad is the most commonly cited source of vascularized tissue, alternative options ...

We describe the case of a 59-year-old man with cirrhosis and hypoxemia whose clinical picture was suspicious for hepatopulmonary syndrome. A transthoracic echocardiogram saline contrast bubble study was unable to decipher between intracardiac and intrapulmonary shunting. Transesophageal echocardiogram could not be done due to esophageal varices. The presence of intrapulmonary ...

A 14-month-old boy was transferred because of dilated and hypertrophied left ventricle, neutropenia, and developmental delay. After checking computed tomographic angiography with contrast-dye, the patient showed acute exacerbation and finally died from multi-organ failure despite intensive cares. From genetic analysis, we revealed that the patient had Barth syndrome and found ...

Temnospondyls, the largest group of Palaeozoic and Mesozoic amphibians, primitively possess rhachitomous vertebrae with multipartite centra (consisting of one horse-shoe-shaped inter- and paired pleurocentra). In a group of temnospondyls, the stereospondyls, the intercentra became pronounced and disc-like, whereas the pleurocentra were reduced. We report the presence of congenital vertebral malformations ...

An 88-year-old man died of streptococcal toxic shock syndrome due to a group G streptococcus infection that was possibly caused by an intramuscular injection given 30 hours earlier in his right deltoid muscle. The causative pathogen was later identified to be Streptococcus dysgalactiae subsp. equisimilis (stG485). Although providing intramuscular injections ...

Objective-To determine treatment outcome on the basis of pathological changes identified on MRI and lameness duration in horses with navicular syndrome that underwent injection of corticosteroid and hyaluronan into the navicular bursa. Design-Retrospective case series. Animals-101 horses with navicular syndrome. Procedures-Medical records of horses with signs of navicular syndrome evaluated ...

We describe the largest reported epineural ganglion of the ulnar nerve arising in the cubital tunnel. A 54-year-old male, driver presented with progressive symptoms of left sided cubital tunnel syndrome. Surgery demonstrated a 11 × 3 cm ganglion which was successfully removed. Post-operatively the patient demonstrated partial recovery with no recurrence of the ...

An 82-year-old male, a known case of severe osteoporosis with vertebral fracture and prostatic carcinoma, was treated with gonadotropin releasing hormone analogue, calcium carbonate, cholecalciferol sachet and injection teriparatide. His diet consisted of milk and curd. He developed altered behavior and generalized weakness, and on investigation, hypercalcemia, hypokalemia, and metabolic ...

Usher syndrome is the leading cause of genetic deaf-blindness. Monoallelic mutations in PDZD7 increase the severity of Usher type II syndrome caused by mutations in USH2A and GPR98, which respectively encode usherin and GPR98. PDZ domain-containing 7 protein (PDZD7) is a paralog of the scaffolding proteins harmonin and whirlin, which ...

OBJECTIVE: To compare the effectiveness of first trimester, second trimester, and integrated screening for Down's syndrome. SETTING: Two prenatal diagnosis centres in China. METHODS: A total of 11,966 pregnant women (≥18 years) were screened over 21 months. First trimester screening (11-13 weeks) comprised measurement of serum free beta-human chorionic gonadotrophin ...

This is a case report of Eagle's syndrome due to osseous metaplasia of the stylohyoid apparatus treated conservatively by injection of a local anesthetic - steroid combination. The incidence, etiopathogenesis, classification, clinical picture and various approaches to treatment of ossified stylohyoid ligament associated with Eagle's syndrome have been discussed. Anterolateral ...

Purple glove syndrome is an uncommon but dreaded complication of intravenous phenytoin administration characterised by pain, oedema and purple-blue discolouration of the limb distal to the site of injection. We describe a 37-year-old gentleman having the characteristic purple glove appearance after phenytoin loading, and discuss the salient features of this ...

Horner's syndrome results from paralysis of the ipsilateral sympathetic cervical chain (stellate ganglion) caused by surgery, drugs (mainly high concentrations of local anesthetics), local compression (hematoma or tumor), or inadequate perioperative positioning of the patient. It occurs in 100% of the patients with an interscalene block of the brachial plexus ...

We report a case of a 19-year-old girl who presented with 5-year history of swelling of upper lip and fissured tongue treated with dapsone then oral steroids without any improvement. Clinical examination found peripheral facial nerve paralysis and Labial mucosa biopsy showed non-necrotizing giganto-epithelioid granuloma. Diagnosis of Melkersson-Rosenthal syndrome was ...

Introduction. Upregulation of interleukin-2 may be involved, not only in the pathophysiology of nephrotic syndrome, but also in steroid resistance treatment, by increasing expression of multidrug resistant gene-1 (MDR1) gene on lymphocytes and its product P-glycoprotein effluxing corticosteroid. Our aim was to assess the relation of serum soluble interleukin-2 receptor ...

MicroRNAs (miRNAs), small non-coding RNA molecules that post-transcriptionally regulate gene expression, are known to play key roles in regulating immune responses and autoimmunity. We investigated miR-146a expression in Sjögren's syndrome (SjS) patients as well as in the SjS-prone C57BL/6.NOD-Aec1Aec2 mouse model, to elucidate its involvement in SjS pathogenesis. Expression of ...

Biodegradable fixation devices made of the polymers polylactide, polyglycolide and their copolymers are used routinely during maxillofacial, craniofacial, and orthopedic reconstructive surgical procedures, thanks to their property of biodegradation that avoid the need for implant removal. In particular, they are used in the treatment of craniosynostosis in pediatric patients affected ...

PURPOSE OF REVIEW: Patients with chronic large granular lymphocyte (LGL) leukemia often have rheumatoid arthritis (RA), neutropenia and splenomegaly, thereby resembling the manifestations observed in patients with Felty's syndrome, which is a rare complication of RA characterized by neutropenia and splenomegaly. Both entities have similar clinical and laboratory presentation, as ...

SLC22A12 gene, encoding urate transport 1, has been known to be responsible to urate metabolism. This study sought to determine the association between the novel G109T polymorphism in SLC22A12 with serum uric acid and the development of metabolic syndrome in Korean male subjects. A total of 132 healthy male subjects ...

Intrauterine growth retardation (IUGR) is a nonspecific finding that occurs in approximately 0.17% of all live-births. However, IUGR can also be a significant feature of many recognized genetic syndromes including Silver-Russel syndrome (SRS), Three M syndrome (3-M), Dubowitz syndrome, and Mulibrey nanism. Differentiation of 3-M syndrome from autosomal recessive SRS ...

Amelogenesis imperfecta (AI) describes a clinically and genetically heterogeneous group of disorders of biomineralization resulting from failure of normal enamel formation. AI is found as an isolated entity or as part of a syndrome, and an autosomal-recessive syndrome associating AI and gingival hyperplasia was recently reported. Using whole-exome sequencing, we ...

Reports of individuals with deletions of 1q24→q25 share common features of prenatal onset growth deficiency, microcephaly, small hands and feet, dysmorphic face and severe cognitive deficits. We report nine individuals with 1q24q25 deletions, who show distinctive features of a clinically recognizable 1q24q25 microdeletion syndrome: prenatal-onset microcephaly and proportionate growth deficiency, ...

Ellis-van Creveld (EVC) syndrome is a rare genetic abnormality that has been linked to a mutation in the EVC or EVC2 genes. Common atrium (CA) is an uncommon cardiac malformation, and yet it is commonly found in patients with EVC. We performed a retrospective review of the cases submitted to ...

Kindler syndrome (OMIM 173650) is an autosomal recessive condition characterized by skin blistering, skin atrophy, photosensitivity, colonic inflammation and mucosal stenosis. Fewer than 100 cases have been described in the literature. First reported in 1954, the molecular basis of Kindler syndrome was elucidated in 2003 with the discovery of FERMT1 ...

The metabolic syndrome (MetS) represents a cluster of cardiometabolic risk factors, including central obesity, insulin resistance, glucose intolerance, dyslipidemia, hypertension, hyperinsulinemia and microalbuminuria, and more recently, nonalcoholic fatty liver disease (NAFLD), polycystic ovarian syndrome (PCOS) and atherosclerosis. Although the concept of the MetS is subject to debate due to lack ...

The HMG-box transcription factor Sox2 plays a role throughout neurogenesis and also acts at other stages of development, as illustrated by the multiple organs affected in the anophthalmia syndrome caused by SOX2 mutations. Here we combined proteomic and genomic approaches to characterize gene regulation by Sox2 in neural stem cells. ...

To survey recent developments in the field of genetics encompassing discovery of new candidate genes, new diagnostic strategies, and new therapies for sudden cardiac death (SCD) syndromes. In addition to new mutations in known SCD genes, several novel genes not previously implicated in SCD causation have been found, particularly in ...

Mutations in the human SBDS (Shwachman-Bodian-Diamond syndrome) gene are the most common cause of Shwachman-Diamond syndrome, an inherited bone marrow failure syndrome. In this issue of Genes & Development, Finch and colleagues (pp. 917-929) establish that SBDS functions in ribosome synthesis by promoting the recycling of eukaryotic initiation factor 6 ...

The NOG gene encodes noggin, a secreted polypeptide that is important for regulating multiple signaling pathways during human development, particularly in cartilage and bone. The hallmark of NOG-related syndromes is proximal symphalangism, defined by abnormal fusion of the proximal interphalangeal joints of the hands and feet. Many additional features secondary ...

Analyzing the phenotypic characterization of the immune system cells involved in the pathogenesis of immunodeficiency with thymoma (Good's syndrome) is difficult due to the low number of studies on that subject. We describe the immunological alterations observed in a case of Good's syndrome, and we summarize the pathogenic explanations found ...

OBJECTIVES: There is currently uncertainty about whether metabolic syndrome has a common underlying process. We performed a gene-centric association study of metabolic syndrome in 98 major cardiometabolic genes in the large, well phenotyped Pressioni Arteriose Monitorate e Loro Associazioni (PAMELA) study. We followed this with functional studies to elucidate a ...

Laminin β2 is a component of laminin-521, which is an important constituent of the glomerular basement membrane (GBM). Null mutations in laminin β2 (LAMB2) cause Pierson syndrome, a severe congenital nephrotic syndrome with ocular and neurologic defects. In contrast, patients with LAMB2 missense mutations, such as R246Q, can have less ...

Background Manitoba-oculo-tricho-anal (MOTA) syndrome is a rare condition defined by eyelid colobomas, cryptophthalmos and anophthalmia/microphthalmia, an aberrant hairline, a bifid or broad nasal tip, and gastrointestinal anomalies such as omphalocele and anal stenosis. Autosomal recessive inheritance had been assumed because of consanguinity in the Oji-Cre population of Manitoba and reports ...

A novel, genetic immunodeficiency syndrome has been recently described, herein termed "MonoMAC". It is characterized by severe circulating monocytopenia, NK- and B-lymphocytopenia, severe infections with M. avium complex (MAC), and risk of progression to myelodysplasia/acute myelogenous leukemia. Detailed bone marrow analyses performed on 18 patients further define this disorder. The ...

Pendred syndrome is an autosomal recessive disorder defined by sensorineural deafness, goiter and a partial defect in the organification of iodide. It is caused by biallelic mutations in the SLC26A4 gene, which encodes pendrin, a multifunctional anion exchanger. At the level of the inner ear, pendrin is important for the ...

Objective. To investigate apoptosis, proliferation, and Fas Ligand expression of placental trophoblast in the hemolysis, elevated liver enzymes, low platelets (HELLP) syndrome, and in preeclampsia (PE), and to compare this to normal pregnancies. Design. Prospective study. Setting. University Hospital in Croatia. Sample. Placentas from women with HELLP syndrome (n = 10), PE ...

The Ras/MAPK signal transduction pathway is critical for the regulation of proliferation and differentiation of multiple cell types. Neurofibromatosis type 1 (NF1) is caused by inactivating mutations in the NF1 gene resulting in an increased Ras signaling cascade. Subsequently, additional syndromes with some overlapping physical manifestations such as Noonan syndrome, ...

The RASopathies, one of the largest groups of multiple congenital anomaly syndromes known, are caused by germline mutations in various genes encoding components of the Ras/mitogen-activated protein kinase (MAPK) pathway. The RASopathies have many overlapping characteristics, including craniofacial manifestations, cardiac malformations, cutaneous, musculoskeletal, gastrointestinal, and ocular abnormalities, neurocognitive impairment, hypotonia, ...

Cardio-facio-cutaneous (CFC) syndrome is a sporadic multiple congenital anomalies/mental retardation condition principally caused by mutations in BRAF, MEK1, and MEK2. Mutations in KRAS and SHOC2 lead to a phenotype with overlapping features. In approximately 10–30% of individuals with a clinical diagnosis of CFC, a mutation in one of these causative ...

OBJECTIVE: To describe a rare case of 45,X Turner's syndrome with elevated T and clitoromegaly caused by ovarian hilus cell hyperplasia. DESIGN: Case report. SETTING: Tertiary care pediatric hospital. PATIENT(S): An 11-and-a-half-year-old girl with 45,X karyotype showed signs of accelerated growth and clitoromegaly and was found to have elevated serum ...

Down syndrome (DS) is a developmental disorder caused by a third chromosome 21 in humans (Trisomy 21), leading to neurological deficits and cognitive impairment. Studies in mouse models of DS suggest that cognitive deficits in the adult are associated with deficits in synaptic learning and memory mechanisms, but it is ...

Sotos syndrome is an autosomal dominant condition characterized by pre- and postnatal overgrowth (tall stature and macrocephaly), a typical facial appearance, advanced bone age, and developmental delay. The syndrome is caused by mutations or deletions of the nuclear receptor binding SET domain protein 1 (NSD1) gene, which encodes a histone ...

Goltz-Gorlin syndrome is a highly variable disorder affecting many body parts of meso-ectodermal origin. Mutations in X-linked PORCN have been identified in almost all patients with a classical Goltz-Gorlin phenotype. The pentalogy of Cantrell is an infrequently described congenital disorder characterized by the combination of five anomalies: a midline supra-umbilical ...

The irritable bowel syndrome (IBS) is a common disorder of unknown etiology. Recently, a group of dysregulated microRNAs (miRNAs) in blood microvesicles and in colon tissue have been identified in IBS patients. miRNAs have been shown to modulate specific biological processes such as differentiation, proliferation, apoptosis and metabolism. The ideal ...

We report on the first cases of FGF3 compound heterozygotes in two European families from non-consanguineous marriages, affected with labyrinthine aplasia, microtia, and microdontia (LAMM) Syndrome. Three not previously described mutations (p.W153VfsX51, p.Y106C, and p.Y49C) and a recurrent one (p.R104X) were found. Analysis of 50 unrelated control subjects (100 chromosomes) ...

BACKGROUND: A polymorphism (1359 G/A) of the CB1 gene was reported as a common polymorphism in Caucasian populations. Some metabolic disorders have been related with this polymorphism. OBJECTIVE: The aim of our study was to investigate the association between metabolic syndrome and this polymorphism. DESIGN: A population of 917 obese ...

PTEN is among the most frequently inactivated tumour suppressor genes in sporadic cancer. PTEN has dual protein and lipid phosphatase activity, and its tumour suppressor activity is dependent on its lipid phosphatase activity, which negatively regulates the PI3K-AKT-mTOR pathway. Germline mutations in PTEN have been described in a variety of ...

Ciliopathies are genetic disorders caused by defects of primary ciliary structure and/or function and are characterized by pleiotropic clinical features. The ciliopathies include several partially overlapping syndromes such as Joubert syndrome, Bardet-Biedl syndrome and Meckel-Gruber syndrome, all of which have pronounced neurodevelopmental features. Here we focus on potential roles of ...

Shared molecular programs govern the formation of heart and head during mammalian embryogenesis. Development of both structures is disrupted in human chromosomal microdeletion of 22q11.2 (del22q11), which causes DiGeorge syndrome (DGS) and velo-cardio-facial syndrome (VCFS). Here, we have identified a genetic pathway involving the Six1/Eya1 transcription complex that regulates cardiovascular ...