PURPOSE: Brain abnormalities in patients with syndromic craniosynostosis can either be a direct result of the genetic defect or develop secondary to compression due to craniosynostosis, raised ICP or hydrocephalus. Today it is unknown whether children with syndromic craniosynostosis have normal brain volumes. The purpose of this study was to ...

The authors report a rare case of a 5 y old girl with type 2 autoimmune polyglandular syndrome, also called Schmidt syndrome, who presented with diabetic ketoacidosis (DKA) at admission.

Abstract Background: This study examined the association of total physical activity volume (TPAV) and physical activity (PA) from three domains [leisure-time physical activity (LTPA), domestic, transportation] with metabolic syndrome. We also investigated the relationship between LTPA intensity and metabolic syndrome risk. Methods: Sample included adults who participated in the 1999-2004 ...

Pearson marrow-pancreas syndrome is a fatal disorder mostly diagnosed during infancy and caused by mutations of mitochondrial DNA. We hereby report on four children affected by Pearson syndrome with hematological disorders at onset. The disease was fatal to three of them and the fourth one, who received hematopoietic stem cell ...

About one third of people in the world suffer from metabolic syndrome (MetS), with symptoms such as hypertension and elevated blood cholesterol, and with increased risk of developing additional diseases such as diabetes mellitus and heart disease. The progression of this multifactorial pathology, which targets various tissues and organs, might ...

A 52-year-old female was treated with CT-guided stereotactic aspiration for acute spontaneous pontine hemorrhage. On postoperative day 7, the patient was complicated by Acinetobacter baumannii sepsis. As sepsis was stabilized, she developed flaccid weakness and autonomic dysfunction on postoperative day 21. Investigations including neurophysiological studies and cerebral spinal fluid analysis ...

INTRODUCTION: Lysis syndrome is a constellation of metabolic disorders usually seen after the initiation of chemotherapy for rapidly proliferating malignancies (tumor lysis syndrome). Reported herein is a tumor lysis-like syndrome after the initiation of anti-infective therapy for visceral leishmaniasis. PATIENTS AND METHODS: Ten consecutive patients with visceral leishmaniasis were administered ...

INTRODUCTION: Peutz-Jeghers syndrome is a rare autosomal dominantly inherited disease characterized by mucocutaneous pigmentations and gastrointestinal polyps. The polyps are located predominantly in the small intestine and usually cause intussusceptions. Adult intussusception caused by Peutz-Jeghers syndrome occurs very rarely. The purpose of this study was to analyze the clinical characteristics, ...

SAPHO (synovitis, acne, pustulosis, hyperostosis, and osteitis) syndrome defines an association of inflammatory cutaneous disorders with osteoarticular manifestations and represents a clinical and therapeutic challenge. We report a case of severe SAPHO syndrome with acne conglobata and a diffuse involvement of the anterior chest wall and sacroiliac joints that required ...

We report a 29-year-old man who presented with a 2-year history of progressive stiffness and painful spasms limited to the bilateral lower limbs, exaggerated by auditory and tactile stimuli. His deep tendon reflexes were slightly increased in both lower extremities. His plantar response was flexor. His serum and cerebrospinal fluid ...

ABSTRACT: The advent of sensitive genetic testing modalities for the diagnosis of Prader-Willi syndrome has helped to define not only the phenotypic features of the syndrome associated with the various genotypes but also to anticipate clinical and psychological problems that occur at each stage during the life span. With advances ...

Abstract Background: Cardiovascular disease (CVD) is more frequent in adults with metabolic syndrome than in those without. We wished to assess the prevalence of the metabolic syndrome and the role of its specific components on prevalent CVD in a large cohort of subjects from the general population. Methods: Seventy-eight general ...

OBJECTIVE: To investigate the relevance of metabolic syndrome in the etiopathogenesis of overactive bladder in female patients. It has been shown that obesity has been associated with overactive bladder (OAB), and the metabolic syndrome and insulin resistance have been related to the annual growth rates of prostate and lower urinary ...

Bare lymphocyte syndrome (BLS) is a rare immunodeficiency disorder manifested by the partial or complete disappearance of major histocompatibility complex (MHC) proteins from the surface of the cells. Based on this specific feature, it is categorized into three different types depending on which type of MHC protein is affected. These ...

The metabolic syndrome is a cluster of common pathologies: abdominal obesity linked to an excess of visceral fat, insulin resistance, dyslipidemia and hypertension. At the molecular level, metabolic syndrome is accompanied not only by dysregulation in the expression of adipokines (cytokines and chemokines), but also by alterations in levels of ...

Aortic aneurysm and/or dissection (AAD) is a life-threatening condition, and several syndromes are known to be related to AAD. In this study, two new technologies, resequencing array technology (ResAT) and next-generation sequencing (NGS), were used to analyze eight genes associated with syndromic AAD in 70 patients with non-syndromic AAD. Eighteen ...

A 40-year-old achondroplastic patient underwent posterior spinal fusion under general endotracheal anesthesia. Anesthesia was maintained with isoflurane, and sufentanil, dexmedetomidine, and lidocaine infusions. Urine output increased from 150 mL/hr to 950 mL/hr the fourth hour. An increasing serum sodium, low urine-specific gravity, and increased serum osmolarity occurred simultaneously with the ...

Abstract Introduction: We sought to evaluate the ability of various metabolic syndrome definitions in predicting primary cardiovascular disease (CVD) outcomes in a vast multiethnic U.S. cohort. Methods: This study included 6,814 self-identified men and women aged 45-84 years enrolled in the Multi-Ethnic Study of Atherosclerosis (MESA) study. Gender-stratified analyses were ...

Ablepharon-Macrostomia syndrome (AMS) is a rare collection of findings characterized by absent or hypoplastic eyelids, fusion defects of the mouth with unfused lateral commissures, abnormal ears, ambiguous genitalia, skin differences including dry and coarse skin or redundant folds of skin, and developmental delay. Fewer than 20 patients have been reported ...

OBJECTIVES: Fenofibrate is a fibric acid derivative that is used alone or combination with statins in the treatment of hyperlipidemia. These drugs have potential risks, including rhabdomyolysis and acute renal failure. Despite reports of rhabdomyolysis with the use of fenofibrate alone or with statin-fibrate combinations, there have been no cases ...

Abstract This article reports a case of Goodpasture's syndrome and microangiopathic haemolytic anaemia developing in a patient with a 2-year history of systemic sclerosis. Goodpasture's syndrome usually presents with lung haemorrhage and acute renal failure, and kidney biopsy typically shows crescentic glomerulonephritis with linear immunoglobulin staining on the glomerular basement ...

  A 6-year-old Hispanic boy presented to the ophthalmology department with complaints of pain, photophobia, and blurry vision of both eyes. He was found to have bilateral granulomatous panuveitis, cataracts, and high intraocular pressures. He later developed multiple asymptomatic, ovoid, hypopigmented patches over the mid-lumbosacral back. Biopsy of lesional skin ...

  A 10-year-old boy with Hunter syndrome and extensive typical skin lesions underwent 9 months of enzyme replacement therapy, after which the skin lesions disappeared. We believe that treatment with idursulfase probably removes the cutaneous storage of glucosaminoglycans in Hunter syndrome.

  We report a pediatric patient with focal dermal hypoplasia syndrome who developed painful excessive granulation tissue refractory to traditional medical and surgical therapies. Complete response was achieved rapidly with a combination of photodynamic therapy and intralesional steroid injections. The patient has remained in remission for longer than a year.

  This report describes a novel missense mutation in the interferon regulation factor 6 (IRF6) gene associated to facial asymmetry. This new feature widens the phenotype spectrum of Van der Woude syndrome (VWS).

PURPOSE OF REVIEW: Fragile X syndrome is the most common form of inherited intellectual disability. Over the past 2 decades, insights into the cause of this disease have increased tremendously. This review will highlight recent discoveries with an emphasis on biochemical pathways affected in the disorder that are potentially amenable ...

PURPOSE OF REVIEW: During the past decade, easy access to sequence analyses has allowed us to increase our understanding of the pathogenesis of severe combined immunodeficiencies. Here, we describe the expanding clinical and immunological spectrum associated with Omenn syndrome phenotype. In particular, we review the cellular and molecular mechanisms involved ...

OBJECTIVE.-: To review the presentations of a series of patients with suspected Irukandji syndrome in the Torres Strait, where the syndrome has hitherto been unknown or undocumented, in order to identify at-risk groups and improve the management of this condition in the region. METHODS.-: A mixed retrospective-prospective review of eight ...

ABSTRACT: Kidney injury associated with chronic lymphocytic leukemia (CLL) is typically caused by direct tumor infiltration which occasionally results in acute renal failure. Glomerular involvement presenting as proteinuria or even nephrotic syndrome is exceptionally rare. Here we report a case of 54-year-old male CLL patient with nephrotic syndrome and renal ...

ABSTRACT: CHARGE is a phenotypically heterogeneous autosomal dominant disorder recognized as a cohesive syndrome since the identification of CHD7 as a genetic etiology. Classic features include: Coloboma, Heart defects, Atresia choanae, Retarded growth and development, Genitourinary abnormalities, and Ear anomalies and/or deafness. With greater accessibility to genetic analysis, a wider ...

PURPOSE: Prolonged postoperative hypoventilation presents a challenge to anesthesiologists with regard to assessing etiology and related treatment. We present a case of recurrent episodes of postoperative hypoventilation in a previously asymptomatic child after uneventful general anesthesia. In this case, the child eventually required lifelong ventilatory support during sleep. CLINICAL FEATURES: ...

Guillain-Barré syndrome (GBS) is an acute immune-mediated disorder of the peripheral nervous system and a triggering infectious event is often reported in the weeks before the disease onset. Influenza viruses have been associated with Guillain-Barré syndrome (GBS), both after infection and, in rare cases, after vaccination. However, GBS has rarely ...

Down syndrome is a condition of intellectual disability characterized by accelerated aging. As with other aging syndromes, evidence accumulated over the past several decades points to a DNA repair defect inherent in Down syndrome. This evidence has led us to suggest that Down syndrome results in reduced DNA base excision ...

D-lactic acidosis is a rare complication that occurs in patients with short bowel syndrome due to surgical intestine resection for treatment of obesity. The clinical presentation is characterized by neurologic symptoms and high anion gap metabolic acidosis. The incidence of this syndrome is unknown, probably because of misdiagnosis and sometimes ...

Here we describe a patient with a new malformation syndrome which shows similarities with Yunis-Varon syndrome (YVS). Prenatal presentation included polyhydramnios, increased nuchal translucency, and bilateral hydrothoraces requiring pigtail insertion. Postnatal presentation revealed primary pulmonary hypertension (PPH), persistent hydrothoraces, one atrial and two ventricular septal defects, hypoplasia of the corpus ...

Objectives: To determine the effect of sildenafil for dogs with Eisenmeger's syndrome and secondary erythrocytosis. Methods: This is a prospective, single arm, open-label study. Five clinical dogs with Eisenmeger's syndrome and secondary erythrocytosis were included. New York Heart Association functional class, packed cell volume, pulmonary artery acceleration time to ejection ...

OBJECTIVES: To identify the prevalence of geriatric syndromes in the premorbid for all syndromes except falls (preadmission), admission, and discharge assessment periods and the incidence of new and significant worsening of existing syndromes at admission and discharge. DESIGN: Prospective cohort study. SETTING: Three acute care hospitals in Brisbane, Australia. PARTICIPANTS: ...

Chromosome 22q11 deletion is the most common chromosomal deletion syndrome and is found in the majority of patients with DiGeorge syndrome and velo-cardio-facial syndrome. Patients with CHARGE syndrome may share similar features. Cardiac malformations, speech delay, and immunodeficiency are the most common manifestations. The immunological phenotype may vary widely between ...

Renal involvement in primary Sjögren's syndrome (pSS) is not uncommon. Autoimmune tubulointerstitial disorders and distal renal tubular acidosis (dRTA) account for majority of the cases of renal involvement. While dRTA may precede the onset of sicca syndrome in pSS, nephrocalcinosis as a presenting manifestation of pSS is rare. Here, to ...

Williams syndrome is a neurodevelopmental disorder associated with significant non-social fears. Consistent with this elevated non-social fear, individuals with Williams syndrome have an abnormally elevated amygdala response when viewing threatening non-social stimuli. In typically-developing individuals, amygdala activity is inhibited through dense, reciprocal white matter connections with the prefrontal cortex. Neuroimaging ...

A proteomic analysis method, two dimensional gel electrophoresis (2-DE) followed by matrix-assisted laser desorption/ionization time-of-flight MS (MALDI-TOF-MS), was used to explore the link between plasma proteome and the different syndromes of traditional Chinese medicine (TCM) in patients with chronic hepatitis B (CHB). In compared with the plasma proteomes from health ...

BACKGROUND: Acute compartment syndrome, a surgical emergency, is defined as increased pressure in an osseofascial space. The resulting reduction of capillary perfusion to that compartment requires prompt fasciotomy. Treatment delay has a poor prognosis, and is associated with muscle and nerve ischemia, resultant infarction, and late-onset contractures. OBJECTIVES: We report ...

We report a patient with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome with a novel splicing mutation of the FOXP3 gene. The patient is a boy, born at 39 + 2 weeks gestation with a birth weight of 3,280 g. The family history was unremarkable. He was well until 11 months of age, when he ...

Roifman syndrome is a rare syndrome of bone dysplasia, growth retardation, retinal dystrophy and humeral immunodeficiency. Six cases have been reported to date, all of whom are male. We report a boy with clinical features of Roifman syndrome, whose older sister has skewed X-inactivation and a milder phenotype of the ...

Barth syndrome is an X-linked disorder usually diagnosed in infancy. It is characterized by hypotonia, dilated cardiomyopathy, neutropenia, growth retardation, and 3-methylglutaconic aciduria. The syndrome is typically caused by mutations in the TAZ (G4.5) gene, which encodes a novel protein family called the tafazzins. We report the case of two ...

People with neuromuscular disabilities have high rates of sedentary behavior predisposing them to severe deconditioning and significant health risk. We describe this as Disability-Associated Low Energy Expenditure Deconditioning Syndrome or DALEEDS, and propose new approaches for promoting light to moderate intensity physical activity in people with disabilities.

Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, failure to thrive, hearing loss, mental retardation, hypothyroidism, dental abnormalities, and anomalies in cardiac and genitourinary systems. More than 60 ...

Popularity of laparoscopic sleeve gastrectomy (LSG) has been growing gradually. The aim of this study was to determine changes in metabolic syndrome parameters as well as insulin, total cholesterol, and LDL cholesterol, and to describe the influence of body weight loss on co-morbidities in obese patients after LSG with 1-year ...

OBJECTIVE:: Evaluate the effects of methylprednisolone on markers of inflammation, coagulation, and angiogenesis during early acute respiratory distress syndrome. DESIGN:: Retrospective analysis. SETTING:: Four intensive care units. SUBJECTS:: Seventy-nine of 91 patients with available samples enrolled in a randomized, blinded controlled trial. INTERVENTIONS:: Early methylprednisolone infusion (n = 55) compared ...

Fibrotic central venous occlusions in patients with thoracic malignancy and prior radiotherapy can be impassable with standard catheters and wires, including the trailing or stiff end of a hydrophilic wire. We report two patients with superior vena cava syndrome in whom we successfully utilized a radiofrequency guide wire (PowerWire, Baylis ...