In this issue of Molecular Cell, Hirschey et al. demonstrate that loss of the NAD(+)-dependent deacetylase SIRT3 and resultant mitochondrial protein hyperacetylation play a critical role in the pathogenesis of metabolic syndrome, providing new insights into the therapeutic potential of SIRT3.

Objective: To report a case of Churg-Strauss syndrome who had asthma and allergic rhinitis treated with montelukast. Clinical Presentation and Intervention: A nonsmoking 59-year-old woman presented with fever, hemoptysis and dyspnea. Past medical history included allergic rhinitis and asthma which were diagnosed 18 years ago. The asthma was treated successfully ...

IntroductionThere are no well-established criteria for patients with corticobasal syndrome. The authors have attempted to clarify this area by comparing and applying three sets of well-known criteria (from Toronto, the Mayo Clinic and Cambridge).Patient and methodsThe authors first compared the three criteria for overlap and differences, and then applied them ...

To determine the prevalence of restless legs syndrome (RLS) in patients with irritable bowel syndrome (IBS). Patients with diarrhea-predominant IBS (n = 30), constipation-predominant IBS (n = 30), or mixed-symptom IBS (n = 30) were recruited from the community between March 2008 and February 2009. Rifaximin 200 mg three times ...

  The objective of this study was to describe the clinical features of Sweet syndrome in children. Our study population consisted of seven children diagnosed with Sweet syndrome over a 22-year period. Age, sex, appearance and location of lesions, associated signs and symptoms, past medical history, pathology, and subsequent disease ...

The study aim was to test whether the metabolic syndrome or its components predicted cognitive decline among persons aged 80 years and older (mean 85.0 years). Participants were members of the "Keys to Optimal Cognitive Aging Project," a prospective cohort study in Okinawa, Japan. Metabolic syndrome was assessed at baseline. ...

Terson syndrome is a known complication of subarachnoid hemorrhage (SAH) that causes potentially reversible vision loss. It develops after SAH because of vitreous hemorrhage caused by retinal capillary disruption. Case series report an incidence of Terson syndrome in approximately 8%-15% of patients with SAH. Nonetheless, the medical literature regarding this ...

Congenital heart defects (CHD) are associated with the recurrent 10q22q23 deletion syndrome and with partially overlapping distal 10q23.2.q23.31 microdeletions. We report on a de novo intragenic deletion of the BMPR1A gene in a normally developing adolescent boy with short stature, delayed puberty, facial dysmorphism and an atrioventricular septal defect. Based ...

We describe a patient with a variant of the hypoplastic left heart syndrome who died 16 weeks after a modified stage 1 Norwood from a mitochondrial DNA depletion syndrome.

  Keratitis-ichthyosis-deafness (KID) syndrome is a rare ectodermal dysplasia, characterized mainly by the presence of hyperkeratotic skin lesions, neurosensory hearing loss, and vascularizing keratitis. Most mutations that have been discovered as a cause of KID syndrome are autosomal dominant, found in exon 2 of the Connexin (Cx) 26 gene. A ...

Bilateral ocular ischemic syndrome and ischemic optic neuropathy have rarely been reported as initial manifestations of Takayasu arteritis (TA). Appearance of ocular symptoms in TA is related to the extent and severity of involvement of the aorta and its major branches. We report a case of bilateral ocular ischemic syndrome ...

Pallister-Killian syndrome (PKS; OMIM: # 601803) is a rare sporadic genetic disorder characterized by pigmentary skin changes, distinctive dysmorphology, developmental delay, and mosaicism for tetrasomy of chromosome 12p. The authors report a case of PKS in a 2-y-old boy. He had pigmentary skin changes, characteristic facial features, developmental delay and ...

Cowden syndrome is a rare, autosomal-dominant, multisystem disorder characterized by hamartomatous tissue overgrowth and an increased risk of breast, thyroid, and endometrial cancers. Most of the cases arise from germline mutations of the phosphatase and tensin homologue tumor suppressor gene. An association with colon cancer remains unproven but has been ...

  Blue rubber bleb nevus syndrome, or Bean syndrome, is a rare sporadic disorder of venous malformations of the skin and internal viscera. We report a rare case of blue rubber bleb nevus syndrome with gastrointestinal and central nervous system involvement.

Infections particularly Mycoplasma pneumoniae and HSV have been reported to be the commonest precipitating cause for Stevens Johnson syndrome (SJS) in children in developed countries and drugs are the commonest triggers reported in the Indian context. Intravenous immunoglobulin (IvIg) is emerging as a therapeutic option instead of glucocorticoids. The authors ...

The recognition of the 17q21.31 microdeletion and microduplication syndrome has been facilitated by high resolution oligonucleotide array comparative genome hybridization technology (aCGH). Molecular analysis of the 17q21.31 microdeletion/duplication syndrome demonstrated a critical region involving at least six genes, including STH and MAPT. The 17q21.31 microdeletion syndrome has an incidence of ...

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 evaluate ...

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.

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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, preoperative ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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. 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 performed to calculate ...

  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 ...

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 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.

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 ...

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 ...

  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).

  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.

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 ...

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: ...

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 ...

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 ...

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 ...

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 ...

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. Prospective cohort study. Three acute care hospitals in Brisbane, Australia. Five hundred seventy-seven general ...