Psoriatic arthritis (PsA) is associated with serious comorbidities such as increased cardiovascular risk, hypertension, depression, and reduced quality of life. Patients with psoriasis have been observed to have an increased incidence of metabolic syndrome compared with the general population; recently, this has also been observed in patients with PsA. This ...

OBJECTIVES: To offer a second opinion on the recently published retrospective diagnosis of Cardinal Carlo de' Medici (1596-1666), a prominent member of the grand ducal family then ruling Tuscany. METHODS: Retrospective diagnosis of historical figures is difficult and at times controversial, even with modern technology. It is based on contemporaneous ...

Although penicillamine has been used effectively in the management of a variety of diseases, several adverse reactions have been observed with prolonged administration of this agent. We report a case of Goodpasture's syndrome, as a result of induction of anti-myeloperoxidase antineutrophil cytoplasmic antibodies in a 51 year old man who ...

A 47-year-old man who had been using finasteride for male pattern alopecia for 4 years complained of progressive bilateral blurring of vision. His general health had been good, and he was not on any other long-term medication. Examination showed bilateral anterior subcapsular cataracts. Phacoemulsification and insertion of intraocular lenses were ...

Intraoperative floppy iris syndrome (IFIS) occurring during cataract surgery in adults has been widely reported in association with tamsulosin and other α-1(a) adrenergic antagonists; however, only one case of pediatric IFIS has been previously reported and was associated with congenital cataract. We report a case of a 1-month old girl ...

The oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked disorder characterized by congenital cataracts, renal tubular dysfunction, cognitive problems and maladaptive behavior. The syndrome is caused by pathogenic DNA variations in the X-linked OCRL1 gene. A 24-month-old boy was referred to our hospital with delayed motor milestones, hypotonia, involuntary purposeless ...

Purpose: To examine the relationship between metabolic syndrome and its components, diabetes mellitus, high blood pressure (BP), obesity, and dyslipidemia, with age-related cataract. Methods: A population-based sample of 2,794 Malay adults aged 40-80 years in Singapore was used for this analysis. Cataract (n=1,268) was defined as the presence of nuclear, ...

To investigate the levels of selenium (Se), an essential trace element, in aqueous humor, conjunctival specimens, and serum of patients with pseudoexfoliation (PEX) syndrome and control subjects; and to determine the role of Se in the development and pathogenesis of PEX syndrome. A prospective case-control study. Twenty-seven cataract patients with ...

Lowe's syndrome is a rare inherited metabolic disorder characterized by mental retardation, kidney malfunction, and abnormalities of the eyes and bones. A 4 month-old child with Lowe's and Fanconi's syndrome, undergoing bilateral congenital cataract surgery, is presented. Preoperative electrolyte imbalance was corrected by potassium, calcium, magnesium, phosphate, and bicarbonate supplementation. ...

We report on three patients (two siblings and one unrelated) presenting in infancy with progressive muscle weakness and paralysis of the diaphragm. Metabolic studies revealed a profile of plasma acylcarnitines and urine organic acids suggestive of a mild form of the multiple acyl-CoA dehydrogenation defect (MADD, ethylmalonic/adipic acid syndrome). Subsequently, ...

This review provides current information about glomerular disorders that arise directly from inherited abnormalities in extracellular matrix proteins intrinsic to the glomerular basement membrane (Alport syndrome, thin basement membrane nephropathy, HANAC syndrome and Pierson syndrome). The authors also discuss disorders involving genetic defects in cellular proteins that result in structural ...

Defects of the thoracic cage with bone and/or muscle deficit are relatively rare and can present a real risk depending on the severity of manifestations. Cleft sternum results from failed midline fusion of the sternal halves that leaves the heart and great vessels unprotected, and is commonly associated with craniofacial ...

Olig1 and Olig2 triplication causes developmental brain defects in Down syndrome Chakrabarti et al. (2010) Nature Neuroscience 13(8):927-934.

We report the case of a newborn baby with a large congenital skull defect owing to Adams-Oliver syndrome. An initial attempt at conservative treatment failed and led to disruption of the leptomeningeal membrane and prolapse of the brain. After local debridement, delayed and stepwise surgical closure was complicated by cerebrospinal ...

Congenital heart defects represent the most common human birth defects. Even though the genetic cause of these syndromes has been linked to candidate genes, the underlying molecular mechanisms are still largely unknown. Disturbance of neural crest cell (NCC) migration into the derivatives of the pharyngeal arches and pouches can account ...

We have established a Drosophila model of Gerstmann-Sträussler-Scheinker (GSS) syndrome by expressing mouse prion protein (PrP) having leucine substitution at residue 101 (MoPrP(P101L)). Flies expressing MoPrP(P101L), but not wild-type MoPrP (MoPrP(3F4)), showed severe defects in climbing ability and early death. Expressed MoPrP(P101L) in Drosophila was differentially glycosylated, localized at the ...

BACKGROUND: The in vivo clinical significance of malignant stem cells remains unclear. METHODS: Patients who have the 5q deletion (del[5q]) myelodysplastic syndrome (interstitial deletions involving the long arm of chromosome 5) have complete clinical and cytogenetic remissions in response to lenalidomide treatment, but they often have relapse. To determine whether ...

Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome is a rare X-linked dominant disorder that is characterized by peculiar cutaneous features commonly associated with skeletal and internal organ involvement. Cutaneous verruciform xanthoma is an uncommon cutaneous manifestation of congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome. We ...

CHARGE syndrome (CS, OMIM #214800) is a rare, autosomal dominant disorder, two-thirds of which are caused by haplo-insufficiency in the Chd7 gene. Here, we show that the Drosophila homolog of Chd7, kismet, is required for proper axonal pruning, guidance and extension in the developing fly's central nervous system. In addition ...

The elucidation of mechanisms and pathogenesis of birth defects is exceedingly complex. Consequently, there are few examples where the etiology of birth defects caused by a specific agent has been well described. One such example is the "Edema Syndrome" first described by Casimer Grabowski in the 1960s as a mechanism ...

OBJECTIVE: We describe patient characteristics and postoperative morbidity and mortality rates for patients with Down syndrome undergoing congenital heart disease surgery. METHODS: This retrospective cohort study used the Society of Thoracic Surgeons Congenital Heart Surgery Database to compare patient characteristics and postoperative outcomes for patients (0-18 years) with or without ...

BACKGROUND: Limb development is a complex process requiring proper spatio-temporal expression of a network of limb specific morphogens. Grem1 and Fmn1 play an important role in mouse and chick limb development. The mouse limb deformity (ld) phenotype with digit reduction, syndactyly, radio-ulnar synostosis, variable renal defects and absent fibulae is ...

Genomic imprinting is one of the most important epigenetic mechanisms of regulation. Faithful establishment and maintenance of imprinting during mammalian fetal development is crucial for correct fetal and postnatal development of the individual. In humans, numerous complex syndromes (including Russell Silver Syndrome and Beckwith Wiedemann syndrome) and cancers are associated ...

Ear defects in patients affected by Treacher Collins syndrome necessitate the replacement of the existing anatomic residuals of the ears with custom-made prostheses. This paper describes a multidisciplinary protocol involving both medicine and computer-aided design/computer-aided manufacturing for manufacturing ear prostheses. Using innovative prototyping technologies together with conventional silicone processing procedures, ...

Overgrowth syndromes: the practical clinical approach. Excessive growth can be present in a variety of medical conditions as result of abnormal fetal metabolism (i.e., maternal gestational diabetes) or of an overgrowth syndrome. Within this latter group of diseases, a LGA newborn requires a complex differential diagnosis encompassing several syndromes, such ...

BACKGROUND: Hypoplastic left heart syndrome may coexist with noncardiac congenital defects or genetic syndromes. We explored the impact of such lesions on outcomes after staged univentricular palliation. METHODS: Society of Thoracic Surgeons database 2002 to 2006: Children diagnosed with hypoplastic left heart syndrome who underwent stage 1 Norwood (n = ...

We report 2 patients with invasive aspergillosis after infection with pandemic (H1N1) 2009. Influenza viruses are known to cause immunologic defects and impair ciliary clearance. These defects, combined with high-dose corticosteroids prescribed during influenza-associated adult respiratory distress syndrome, may be novel risk factors predisposing otherwise immunocompetent patients to invasive aspergillosis.

Ocular fat embolism syndrome in the complete absence of any cardiac defects is a rare phenomenon which is not commonly encountered in ophthalmic practice. We present a case of a 16-year-old girl with fat embolism syndrome and involvement of the retina after a tibial fracture without any cardiac defect.

SUMMARY: A variety of congenital syndromes affecting the face occur due to defects involving the first and second BAs. Radiographic evaluation of craniofacial deformities is necessary to define aberrant anatomy, plan surgical procedures, and evaluate the effects of craniofacial growth and surgical reconstructions. High-resolution CT has proved vital in determining ...

Axenfeld-Rieger syndrome is a genetically heterogeneous, autosomal dominant disorder characterized by anomalies of the anterior segment of the eye, face, teeth, and umbilicus. Many other extraocular findings, including congenital heart defects, have been reported in association with this syndrome. It has been suggested by some investigators that the coexistence of ...

SUMMARY: A variety of congenital syndromes affecting the face occur due to defects involving the first and second BAs. Radiographic evaluation of craniofacial deformities is necessary to define aberrant anatomy, plan surgical procedures, and evaluate the effects of craniofacial growth and surgical reconstructions. High-resolution CT has proved vital in determining ...

Patau syndrome is a chromosomal disorder associated with multiple malformations caused by inheritance of an extra chromosome (trisomy 13). Some skin defects have been reported in patients with Patau syndrome, such as scalp defects, glabellar stains, deep palmar creases, rocker-bottom feet, convex soles, hyperconvextity of the nails, and multiple hemangiomas. ...

Embryonic heart and limb development are closely related with >100 known inherited disorders affecting both. Common limb defects include duplication, deficiencies, and hypoplasia. Ventricular septal defects and atrial septal defects are the commonest associated cardiac conditions. A positive association exists between heart defects and limb disorders when these disorders are ...

The Hyper-immunoglobulin M syndromes (HIGM) are a heterogeneous group of genetic disorders resulting in defects of immunoglobulin class switch recombination (CSR), with or without defects of somatic hypermutation (SHM). They can be classified as defects of signalling through CD40 causing both a humoral immunodeficiency and a susceptibility to opportunistic infections, ...

We present the case of a patient with Noonan syndrome who was seen for the first time at the age of 69 years with combined pulmonary valve stenosis and atrial septal defect. The patient was treated by a staged percutaneous approach. The treatment of these combined congenital heart defects remains ...

Atrial septal restriction is estimated to occur in up to 22% of patients with hypoplastic left heart syndrome and is associated with poor prognosis postnatally. Atrial septal aneurysms are known to be more prevalent in patients with congenital heart disease and atrial septal restriction due to elevated atrial pressures in ...

Platypnea-orthodeoxia syndrome is a rare and poorly understood condition related to the development of a right-to-left intracardiac shunt at the atrial level through a benign and silent patent foramen ovale. It is usually recognized after major lung resection, recurrent pulmonary embolism or chronic lung disease. Orthostatic dyspnea and cyanosis is ...

Prune belly syndrome (PBS) is a rare congenital constellation of defects in pediatric surgical practice. Although anorectal anomalies have been reported in association with PBS, only few case of pouch colon with PBS has been reported. [1] In addition, our patient had deficient abdominal wall with absent dermatome in left ...

It is important to recognize the possibility of a syndromic etiology of cardiac defects when dysmorphic features and other congenital defects are present. We report a patient who presented with atrial fibrillation and was found to have an abnormal mitral valve, congenital aneurysm of the left atrial appendage, and features ...

Turner syndrome is associated with a higher frequency of heart defects detected prenatally when compared to postnatal reports. The most common heart defects detected prenatally are hypoplastic left heart syndrome and coarctation of the aorta. We report a case involving a fetus at 16 gestational weeks with a septated cystic ...

Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome is a rare disorder characterized by birth defects of several organ systems, including the skin, viscera, musculoskeletal system, and central nervous system. The authors present the first report of CHILD syndrome with ocular manifestations in a patient with progressive bilateral ...

This report describes a new finding of iris transillumination defects in Pallister-Killian syndrome, a rare multi-system disorder resulting from mosaic tetrasomy of the short arm of chromosome 12.

Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomalies syndromes in which the obligatory hallmark is the molar tooth sign (MTS), a complex midbrain-hindbrain malformation visible on brain imaging, first recognized in JS. Estimates of the incidence of JSRD range between 1/80,000 and 1/100,000 ...

The association of cardiac defects with Kabuki syndrome has been well described. The majority of these defects are isolated shunt lesions, conotruncal abnormalities, or various forms of arch obstruction. This report describes a series of three patients with hypoplastic left heart syndrome and Kabuki syndrome. The series illustrates the full ...

We present a patient with features of Ulnar Mammary syndrome (UMS) consisting of bilateral ulnar defects, inverted nipples, short stature with associated growth hormone deficiency, and cryptorchidism. Our patient also had a hypoplastic anterior pituitary and an ectopic posterior pituitary gland, ventricular septal defect (VSD), and cardiac conduction defects consistent ...

Adams-Oliver syndrome is a rare congenital disorder that includes congenital scalp and skull defects, variable degrees of terminal transverse limb anomalies, and cardiac malformations. Cutis aplasia occurring in 75% of patients is a potentially life-threatening condition. Large skin defects that cannot be closed primarily present a management dilemma, and may ...

Congenital disorders of glycosylation (CDG) are genetic diseases due to defects in the synthesis of glycans and in the attachment of glycans to lipids and proteins. Actually, some 42 CDG are known including defects in protein N-glycosylation, in protein O-glycosylation, in lipid glycosylation, and in multiple and other glycosylation pathways. ...

Patients with Apert syndrome (AS) display a wide range of congenital malformations including tracheal stenosis, which is a disease characterized by a uniform cartilaginous sleeve in place of a normally ribbed cartilagenous trachea. We have studied the cellular and molecular basis of this phenotype in a mouse model of AS ...

Meckel syndrome (MKS) is a rare autosomal recessive disease causing perinatal lethality associated with a complex syndrome that includes occipital meningoencephalocele, hepatic biliary ductal plate malformation, postaxial polydactyly and polycystic kidneys. The gene mutated in type 1 MKS encodes a protein associated with the base of the cilium in vertebrates ...

The cloaca/urogenital sinus and its adjacent region differentiate into the urogenital/reproductive organs. Caudal regression syndrome (CRS; including mermaid syndrome), a type of severe cloacal malformation displays hindlimb fusion and urogenital organ defects, thus suggesting that such defects are caused by several morphogenetic alterations during early development. The attenuation of bone ...