10,249 results match your criteria Multisystem Organ Failure of Sepsis


Cardiovascular and Metabolic Risk in Women in the First Year Postpartum: Allostatic Load as a Function of Race, Ethnicity, and Poverty Status.

Am J Perinatol 2018 Dec 14. Epub 2018 Dec 14.

Department of Internal Medicine, UCLA Geffen School of Medicine, Los Angeles, California.

Objective:  Allostatic load (AL) represents multisystem physiological "wear-and-tear" reflecting emerging chronic disease risk. We assessed AL during the first year postpartum in a diverse community sample with known health disparities.

Methods:  The Shriver National Institute for Child Health and Human Development Community Child Health Network enrolled 2,448 predominantly low-income African-American, Latina, and White women immediately after delivery of liveborn infants at ≥20 weeks' gestation, following them over time with interviews, clinical measures, and biomarkers. Read More

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December 2018
1 Read

Survival and outcome in MELAS not only depends on onset and disease duration.

J Neurol Sci 2018 Dec 6;397:9-10. Epub 2018 Dec 6.

University of Tunis El Manar and Genomics Platform, Pasteur Institute of Tunis, Tunisia.

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December 2018

Rehabilitation in systemic sclerosis: proposed personalised rehabilitation programme.

G Ital Med Lav Ergon 2018 Dec;40(4):248-256

Physical Medicine and Rehabilitation Unit, IRCCS Policlinico San Matteo Foundation, Pavia, Italy; University of Pavia, Italy.

Objectives: Systemic sclerosis is a multisystem autoimmune disease that causes chronic widespread obliterative vasculopathy of the small arteries associated with various degrees of tissue fibrosis. The prognosis of the disease depends largely on the visceral involvement; however musculoskeletal involvement is an important factor to functional disability. Suffering from a chronic auto-immune disease, such as Systemic Sclerosis, compromises the quality of life and the work ability. Read More

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December 2018
1 Read

Fibrinolytic Shutdown Is Associated With Thrombotic and Hemorrhagic Complications and Poorer Outcomes After Liver Transplantation.

Liver Transpl 2018 Dec 7. Epub 2018 Dec 7.

Department of Anesthesia, University of Miami/Jackson Memorial Hospital, Miami, FL.

Detrimental consequences of hypofibrinolysis, also known as fibrinolytic shutdown (FS), have recently arisen, and its significance in liver transplantation remains unknown. To fill this gap, this retrospective study included 166 adults who received transplants between 2016 and 2018 for whom baseline thromboelastography was available. Based on percent (%) clot lysis 30 minutes after maximal amplitude, patients were stratified into 3 fibrinolysis phenotypes: FS, physiologic fibrinolysis, and hyperfibrinolysis. Read More

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December 2018
1 Read

Increased IL-1β levels are associated with an imbalance of "oxidant/antioxidant" status during Behçet's disease.

Eur Cytokine Netw 2018 Sep;29(3):95-102

USTHB, "Cytokines and NO Synthases" team, LBCM, FSB, BP 32, El Alia, 16111, Bab ezzouar, Algiers, Algeria.

Behçet's disease is a multisystem disease. It stands at the crossroad between the autoimmunity and auto-inflammatory disorders. In this study, we sought to address a relationship that might exist between interleukin-1β (IL-1β) and the oxidants/antioxidants markers in Behçet's patients. Read More

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September 2018
1 Read

Arterial involvement in Erdheim-Chester disease: A retrospective cohort study.

Medicine (Baltimore) 2018 Dec;97(49):e13452

Division of Rheumatology.

Erdheim-Chester disease (ECD) is a rare histiocytosis of the "L" (Langerhans) group with multisystem involvement that can affect the large and medium-sized arteries mimicking vasculitis. Aortic involvement is common but the frequency and outcome of aortic branch vessel abnormalities are less well described.Patients with ECD were retrospectively identified. Read More

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December 2018

The long-term prognostic significance of sarcoidosis-associated pulmonary hypertension - A cohort study.

Clin Immunol 2018 Dec 10. Epub 2018 Dec 10.

Department of Medicine 'B', Sheba Medical Center, Tel-Hashomer, Israel; Zabludowicz Center for Autoimmune Diseases, Sheba Medical Center, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel. Electronic address:

Background: Sarcoidosis is a multisystem, chronic, progressive, granulomatous disease. Sarcoidosis-associated pulmonary hypertension is a well described, but not common, complication of sarcoidosis. In small scale studies, it has been previously described as manifestation of advanced disease and was found to be associated increased morbidity and mortality. Read More

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December 2018

Clinical and Radiological Markers of Extra-Motor Deficits in Amyotrophic Lateral Sclerosis.

Front Neurol 2018 22;9:1005. Epub 2018 Nov 22.

Computational Neuroimaging Group, Academic Unit of Neurology, Trinity College Dublin, Dublin, Ireland.

Amyotrophic lateral sclerosis (ALS) is now universally recognized as a complex multisystem disorder with considerable extra-motor involvement. The neuropsychological manifestations of frontotemporal, parietal, and basal ganglia involvement in ALS have important implications for compliance with assistive devices, survival, participation in clinical trials, caregiver burden, and the management of individual care needs. Recent advances in neuroimaging have been instrumental in characterizing the biological substrate of heterogeneous cognitive and behavioral deficits in ALS. Read More

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November 2018

The movement disorder spectrum of SCA21 (ATX-TMEM240): 3 novel families and systematic review of the literature.

Parkinsonism Relat Disord 2018 Nov 29. Epub 2018 Nov 29.

Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany. Electronic address:

Spinocerebellar ataxia type 21 (SCA21/ATX-TMEM240) was recently found to be caused by mutations in TMEM240, with still limited knowledge on the phenotypic spectrum and disease course. Here we present five subjects from three novel SCA21 families from different parts of the world (including a novel c.196G > A, p. Read More

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November 2018

[Association between SAMD9/SAMD9L and hematological malignancies].

Rinsho Ketsueki 2018 ;59(11):2475-2480

Department of Pediatrics, Keio University School of Medicine.

In this article, knowledge about SAMD9/SAMD9L molecules, which has been a topic of interest in the field of hematological malignancies, was reviewed. Based on clinical genetic research on hematologic malignancies with chromosome 7 abnormality (e.g. Read More

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January 2018

Cystic Fibrosis: Advancing Along the Continuum.

J Pediatr Health Care 2018 Oct 24. Epub 2018 Oct 24.

Cystic fibrosis (CF) is an autosomal recessive genetic disorder resulting from a mutation in the gene which encodes a cellular transmembrane protein channel known as the CF transmembrane conductance regulator. Located systemically on the surface of numerous cells, these altered channels yield multisystem dysfunction. Typical manifestations seen are chronic, progressive, obstructive lung disease, pancreatic insufficiency, CF-related diabetes mellitus, malabsorption and malnutrition, liver disease, and infertility. Read More

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October 2018

Abnormal topological organization of structural covariance networks in amyotrophic lateral sclerosis.

Neuroimage Clin 2018 Nov 30. Epub 2018 Nov 30.

Department of Radiology, Chongqing University Cancer Hospital, Chongqing Cancer Institute, Chongqing Cancer Hospital, Chongqing 400030, PR China; Key Laboratory for Biorheological Science and Technology of Ministry of Education (Chongqing University), Chongqing University Cancer Hospital, Chongqing Cancer Institute, Chongqing Cancer Hospital, Chongqing 400044, PR China. Electronic address:

Neuroimaging studies of patients with amyotrophic lateral sclerosis (ALS) have shown widespread alterations in structure, function, and connectivity in both motor and non-motor brain regions, suggesting multi-systemic neurobiological abnormalities that might impact large-scale brain networks. Here, we examined the alterations in the topological organization of structural covariance networks of ALS patients (N = 60) compared with normal controls (N = 60). We found that structural covariance networks of ALS patients showed a consistent rearrangement towards a regularized architecture evidenced by increased path length, clustering coefficient, small-world index, and modularity, as well as decreased global efficiency, suggesting inefficient global integration and increased local segregation. Read More

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November 2018

Glioblastoma in a patient with tuberous sclerosis.

J Clin Neurosci 2018 Oct 24. Epub 2018 Oct 24.

Department of Neurosurgery, The Royal Melbourne Hospital, Parkville, Victoria, Australia; Department of Surgery, The University of Melbourne, Parkville, Victoria, Australia.

Tuberous sclerosis complex (TSC) is a multisystem, autosomal dominant disorder with a wide clinical spectrum. The most common brain tumor associated with TSC is the low grade subependymal giant cell astrocytoma. Reports of high grade primary brain tumors in patients with TSC are rare. Read More

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October 2018

Enzyme enhancement therapeutics for lysosomal storage diseases: Current status and perspective.

Mol Genet Metab 2018 Nov 22. Epub 2018 Nov 22.

Department of Biological Sciences, Simon Fraser University, 8888 University Dr., Burnaby B.C. V5A 1S6, Canada. Electronic address:

Small-molecule- enzyme enhancement therapeutics (EETs) have emerged as attractive agents for the treatment of lysosomal storage diseases (LSDs), a broad group of genetic diseases caused by mutations in genes encoding lysosomal enzymes, or proteins required for lysosomal function. The underlying enzyme deficiencies characterizing LSDs cause a block in the stepwise degradation of complex macromolecules (e.g. Read More

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November 2018

The Impact of Psychiatric Symptoms on Tuberous Sclerosis Complex and Utilization of Mental Health Treatment.

Pediatr Neurol 2018 Nov 3. Epub 2018 Nov 3.

Department of Pediatrics, Division of Medical Genetics, McGovern Medical School, University of Texas Health at Houston, Houston, Texas; University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences, Houston, Texas. Electronic address:

Background: Tuberous sclerosis complex (TSC) is a multisystem, neurocutaneous disorder with a spectrum of TSC-associated neuropsychiatric disorders. The most common neuropsychiatric manifestations in the pediatric and adult populations are cognitive concerns, depression, and anxiety. Previous research suggests that while 90% of individuals with TSC have some TSC-associated neuropsychiatric disorders features, only 20% receive treatment, leading to a 70% treatment gap. Read More

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November 2018

Complications of Intravesical BCG Immunotherapy for Bladder Cancer.

Radiographics 2018 Dec 7:180014. Epub 2018 Dec 7.

From the Department of Radiology, Weill Cornell Medicine, New York-Presbyterian Hospital, 525 E. 68th St, Box 141, New York, NY 10065 (D.B.G.); Department of Radiology, Mayo Clinic Arizona, Scottsdale, Ariz (A.K.) and Phoenix, Ariz (C.O.M.); Department of Radiology, Okayama University Hospital, Okayama, Japan (T.T.); Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY (G.R.S.); Department of Radiology, Mallinckrodt Institute of Radiology, Washington University School of Medicine, St Louis, Mo (S.B.); Departments of Radiology and Medicine, Zucker School of Medicine at Hofstra Northwell, North Shore University Hospital, Manhasset, NY (R.S.); and Department of Radiology, Mayo Clinic, Rochester, Minn (B.F.K.).

Bladder cancer is the sixth most common cancer in the United States, and 70% of cases are non-muscle invasive. Intravesical bacillus Calmette-Guérin (BCG) immunotherapy, administered after transurethral tumor resection, is the most effective adjuvant treatment for intermediate- and high-grade non-muscle-invasive bladder cancer. Despite its weakened state, BCG has the potential to cause multisystem disease in treated patients. Read More

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December 2018

A multicenter study of patients with multisystem Langerhans cell histiocytosis who develop secondary hemophagocytic lymphohistiocytosis.

Cancer 2018 Dec 6. Epub 2018 Dec 6.

Department of Oncology, St. Jude Children's Research Hospital, Memphis, Tennessee.

Background: Langerhans cell histiocytosis (LCH) is a rare myeloid neoplasm characterized by the presence of abnormal CD1a-positive (CD1a )/CD207 histiocytes. Hemophagocytic lymphohistiocytosis (HLH) represents a spectrum of hyperinflammatory syndromes typified by the dysregulated activation of the innate and adaptive immune systems. Patients with LCH, particularly those with multisystem (MS) involvement, can develop severe hyperinflammation mimicking that observed in HLH. Read More

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December 2018
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Trajectories of motor abnormalities in milder phenotypes of ataxia telangiectasia.

Neurology 2018 Nov 30. Epub 2018 Nov 30.

From the Department of Neurology-Pediatric Neurology (N.J.H.v.O., M.A.A.P.W.) and Department of Neurology (N.J.H.v.O., J.v.G., B.P.C.v.d.W.), Donders Institute for Brain, Cognition and Behaviour, Donders Center for Medical Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Neurology (A.H.), Addenbrookes Hospital, Cambridge; Institute of Cancer & Genomic Sciences (A.M.R.T.), University of Birmingham, UK; Department of Internal Medicine (M.v.D.), Radboud University Medical Center, Nijmegen; Department of Pediatric Infectious Diseases and Immunology (C.M.R.W.), Amalia Children's Hospital and Radboud Institute for Molecular Life Sciences, and Department of Pediatrics, Radboudumc Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands.

Objective: To describe and classify the neurologic trajectories in patients with mild neurologic forms of ataxia telangiectasia (A-T) from the Dutch A-T cohort, combined with patients reported in the literature.

Methods: Clinical, genetic, and laboratory data of 14 patients with mild neurologic phenotypes of A-T from the Dutch cohort were analyzed and combined with corresponding data from the literature. A mild neurologic phenotype was defined by a later onset, nonataxia presenting or dominant feature, or slower progression compared to the classic A-T phenotype. Read More

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November 2018

Cardiovascular Disease and Frailty: What Are the Mechanistic Links?

Authors:
Ralph Stewart

Clin Chem 2018 Nov 30. Epub 2018 Nov 30.

Green Lane Cardiovascular Service, Auckland City Hospital, Auckland, New Zealand.

Background: In aging populations, cardiovascular disease (CVD) and frailty are common and often coexist. It is possible that common risk factors and pathophysiological pathways increase the risk of both CVD and frailty.

Content: Frailty is a complex clinical syndrome with multiple causes and contributing factors. Read More

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November 2018
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Dismal outcomes following damage control laparotomy in injured older adults, a cohort study.

Am J Surg 2018 Nov 14. Epub 2018 Nov 14.

Department of Surgery, Alpert Medical School at Brown University, United States. Electronic address:

Background: The population of older adults is rapidly growing and more older patients are presenting with abdominal trauma. Outcomes have not been well defined for patients that require a damage control approach(DCL).

Methods: This was a retrospective study at a level one trauma center of patients age 65 years and older with abdominal trauma that required DCL. Read More

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November 2018
1 Read

Clinical decision making and application of an active rehabilitation program for a person with the neuromuscular symptoms of Allgrove syndrome: a case report.

Authors:
Joseph T Adams

Physiother Theory Pract 2018 Dec 3:1-8. Epub 2018 Dec 3.

a Rusk Rehabilitation, Clinical Instructor, Department of Rehabilitation Medicine NYU School of Medicine , NYU Langone Health , New York , NY , USA.

Background: Allgrove syndrome is a multisystem disorder first described in 1978 and is classically associated with esophageal achalasia, alacrima, and adrenal insufficiency. Allgrove syndrome is caused by homozygous and/or compound heterozygous mutations on Chromosome 12q13, designated as "AAA" (Achalasia, Addisonianism Alacrima). AAA encodes the protein ALADIN (Alacrima, Achalasia, aDrenal Insufficiency Neurologic disorder), a member of the nuclear porin family forming the nuclear pore complex. Read More

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December 2018
2 Reads

Post-partum catastrophic antiphospholipid syndrome presenting with shock and digital ischaemia - A diagnostic and management challenge.

J Intensive Care Soc 2018 Nov 19;19(4):357-364. Epub 2018 Mar 19.

Intensive Care Medicine, Nepean Hospital, Kingswood, NSW, Australia.

Catastrophic antiphospholipid syndrome is a rare multisystem autoimmune condition characterised by rapid development of widespread thrombotic disease and subsequent multi-organ failure. It is the most severe complication of antiphospholipid syndrome, carrying significant morbidity and mortality. We report a patient with post-partum catastrophic antiphospholipid syndrome with cardiac, hepatic, renal and cutaneous manifestations. Read More

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November 2018
2 Reads

Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD).

Mol Genet Metab 2018 Nov 29. Epub 2018 Nov 29.

Stony Brook University, School of Medicine, Stony Brook, NY, USA.

Background: Acid sphingomyelinase deficiency (ASMD), a rare lysosomal storage disease, results from mutations in SMPD1, the gene encoding acid sphingomyelinase (ASM). As a result, sphingomyelin accumulates in multiple organs including spleen, liver, lung, bone marrow, lymph nodes, and in the most severe form, in the CNS and peripheral nerves. Clinical manifestations range from rapidly progressive and fatal infantile neurovisceral disease, to less rapidly progressing chronic neurovisceral and visceral forms that are associated with significant morbidity and shorter life span due to respiratory or liver disease. Read More

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November 2018
1 Read

Hemangiomas of the tongue and the oral cavity in a myotonic dystrophy type 1 patient: A case report.

Medicine (Baltimore) 2018 Nov;97(48):e13448

Istituto di Ricovero e Cura a Carattere Scientifico Centro Neurolesi "Bonino-Pulejo".

Rationale: Myotonic dystrophy type 1 (DM1) is an autosomal dominant disease caused by a cytosine, guanine, thymine (CTG) trinucleotide repeat expansion in the non-coding region of dystrophia myotonica protein kinase gene, causing a multisystem involvement. To date, few studies have been performed to evaluate skin features in DM1 patients, but none reported on the possible association between the disease and tongue hemangiomas.

Patients Concerns: We report a case of a 63-year-old woman affected by DM1 and presenting, at the intraoral examination, several swelling and buish lesions occurring on buccal and palatal mucosa, and in the anterior two-thirds and margins of the tongue. Read More

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November 2018
2 Reads

Adult Langerhans' cell histiocytosis with multisystem involvement: A case report.

Medicine (Baltimore) 2018 Nov;97(48):e13366

Department of Radiology, Soonchunhyang University College of Medicine, Bucheon Hospital, Bucheon, Republic of Korea.

Rationale: Langerhans' cell histiocytosis (LCH), also called histiocytosis X, is an uncommon disorder manifesting in a variety of ways. Although LCH can involve various organs including bone, skin, and lymph nodes, multisystem involvement of LCH is rare in adults.

Patient Concerns: A 31-year-old woman first presented to our hospital with left leg pain. Read More

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November 2018
2 Reads

Non-alcoholic fatty liver disease: a pandemic disease with multisystem burden.

Hepatobiliary Surg Nutr 2018 Oct;7(5):389-391

The Texas Liver Institute, University of Texas (UT) Health San Antonio, San Antonio, TX, USA.

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October 2018
4 Reads

Proposed Classification System for Retinal Capillary Angiomatosis.

Ophthalmic Res 2018 Nov 29:1-5. Epub 2018 Nov 29.

Retinal angiomas are rare tumors that develop within the vascular bed of the retina. Their occurrence may be sporadic or as part of the multisystem disorder called von Hippel-Lindau disease. It is well established in literature that retinal angiomas have a natural history of evolving as small aneurysmal dilatations and progressing to vision-threatening retinal detachments. Read More

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November 2018
1 Read

Radiological neuro-Behçet's associated with bipolar disorder: first presentation of a multisystem disease.

J R Coll Physicians Edinb 2018 Dec;48(4):323-327

Solihull Hospital, Lode Lane, Solihull B91 2JL, UK,

Behçet's disease is a chronic, relapsing, systemic inflammatory disease affecting the orogenital mucosa, eyes, joints, blood vessels, nervous system and intestines. The prevalence of neurological involvement varies geographically and can include psychiatric manifestations. Current evidence for a causal association between Behçet's disease and bipolar disorder is limited to a small number of case reports. Read More

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December 2018
3 Reads

Systemic Lupus Erythematous: Symptoms and Signs at Initial Presentations.

Antiinflamm Antiallergy Agents Med Chem 2018 Nov 28. Epub 2018 Nov 28.

Rheumatology Department, Ministry of Health and Prevention, PO Box 65522, Dubai. Saudi Arabia.

Systemic lupus erythematosus (SLE) is an autoimmune multisystem inflammatory condition that causes microvascular inflammation with the production of various auto-antibodies that play a major role in its pathogenesis. SLE can affect both sexes, all ages, and all ethnic groups with widespread geographical and socioeconomic backgrounds. Asia encompasses people of many sociocultural backgrounds with diverse ethnic. Read More

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November 2018
11 Reads

VCP myopathy: A family with unusual clinical manifestations.

Muscle Nerve 2018 Nov 29. Epub 2018 Nov 29.

Department of Neuromuscular Disease, The Third Hospital of Hebei Medical University, 139# Ziqiang Road, Shijiazhuang City, Hebei Province, 050051, P. R. China.

Introduction: Valosin-containing protein (VCP) variants that affect muscle, bone, and the nervous system are termed multisystem proteinopathy. VCP myopathy is manifested as limb-girdle weakness, distal weakness and scapuloperoneal weakness.

Methods: We reviewed clinical, genetic, and muscle biopsy data from 6 members of a family with VCP myopathy. Read More

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November 2018
1 Read

Parkinson disease.

Handb Clin Neurol 2018 ;159:173-193

Movement Disorders Unit, Department of Neurology, Westmead Hospital and Sydney Medical School, University of Sydney, Sydney, NSW, Australia. Electronic address:

Parkinson disease (PD) is a complex, multisystem disorder with both neurologic and systemic nonmotor manifestations. It is neurodegenerative in nature in which disordered balance, gait, and falls are universal problems that can be present at initial diagnosis, and which progress over time. Freezing of gait is a particularly debilitating feature of PD that becomes more prevalent over time with disease progression, being present in approximately 7% after 2 years of disease and 28% after 5 years. Read More

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January 2018
1 Read

Pharmacological management of cachexia in adult cancer patients: a systematic review of clinical trials.

BMC Cancer 2018 Nov 27;18(1):1174. Epub 2018 Nov 27.

Department of Medicine, Division of Oncology, The University of Texas Health Science Center at Houston, McGovern Medical School, Houston, TX, 77030, USA.

Background: Cachexia is a multisystem syndrome characterized by weight loss, anorexia, loss of muscle mass, systemic inflammation, insulin resistance, and functional decline. Management of cachexia involves addressing multiple underlying biological mechanisms. Previous review on pharmacological management of cancer cachexia identified progestins and corticosteroids as effective agents for treatment of cachexia. Read More

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November 2018
1 Read

[Preeclampsia: New Classifications].

Praxis (Bern 1994) 2018 Nov;107(24):1333-1337

1 Klinik für Geburtshilfe & Pränataldiagnostik, Kantonsspital Baden AG.

Preeclampsia: New Classifications Abstract. Preeclampsia is a multisystem disease leading to systemic impairment of the maternal endothelial function. A dysbalance of pro- and antiangiogenic factors appears to be significantly involved. Read More

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November 2018
1 Read

Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?

Int J Mol Sci 2018 Nov 23;19(12). Epub 2018 Nov 23.

Institute of Biomedicine and Molecular Immunology "A. Monroy", National Research Council, 90146 Palermo, Italy.

Anderson-Fabry disease (FD) is a rare, progressive, multisystem storage disorder caused by the partial or total deficit of the lysosomal enzyme α-galactosidase A (α-Gal A). It is an X-linked, lysosomal enzymopathy due to mutations in the galactosidase alpha gene (GLA), encoding the α-Gal A. To date, more than 900 mutations in this gene have been described. Read More

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November 2018
8 Reads

Hot Cross Bun Sign - Multisystem Atrophy (Cerebellar Type).

J Assoc Physicians India 2018 May;66(5):87

Post Graduates in General Medicine, Govt. Mohan Kumaramangalam Medical College Hospital, Salem, Tamil Nadu.

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May 2018
1 Read

Subclinical atherosclerosis in psoriatic disease: relation to endocan, TNF-α, age of onset, and body fat.

Int J Dermatol 2018 Nov 23. Epub 2018 Nov 23.

Department of Dermatology, Venereology and Andrology, Faculty of Medicine, Alexandria University, Alexandria, Egypt.

Background: Psoriasis is a common multisystem inflammatory disease with several associated comorbidities. Serological markers to detect associated subclinical atherosclerosis in psoriatic patients are needed. We aimed to study serum endocan levels in psoriasis vulgaris and its relation to severity of psoriasis, systemic inflammation, associated atherosclerosis, obesity, and the possible factors affecting its level in psoriatic patients. Read More

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November 2018
3 Reads

A retrospective analysis of health care utilization for patients with mitochondrial disease in the United States: 2008-2015.

Orphanet J Rare Dis 2018 Nov 22;13(1):210. Epub 2018 Nov 22.

Massachusetts General Hospital, Boston, MA, USA.

Background: Mitochondrial disease (MD) is a heterogeneous group of disorders characterized by impaired energy production caused by abnormal oxidative phosphorylation. Diagnosis of MD is challenging given the variability in how the disease can affect an individual's neurologic, cardiovascular, ophthalmologic, or gastroenterological systems. This study describes the health care utilization and cost in patients diagnosed with MD. Read More

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November 2018
3 Reads

FAST-1 antisense RNA epigenetically alters FXN expression.

Sci Rep 2018 Nov 21;8(1):17217. Epub 2018 Nov 21.

Division of Biosciences, Department of Life Sciences, College of Health & Life Sciences, and Synthetic Biology Theme, Institute of Environment, Health & Societies, Brunel University London, Uxbridge, United Kingdom.

Friedreich ataxia (FRDA) is a multisystem genetic disorder caused by GAA repeat expansion mutations within the FXN gene, resulting in heterochromatin formation and deficiency of frataxin protein. Elevated levels of the FXN antisense transcript (FAST-1) have previously been detected in FRDA. To investigate the effects of FAST-1 on the FXN gene expression, we first stably overexpressed FAST-1 in non-FRDA cell lines and then we knocked down FAST-1 in FRDA fibroblast cells. Read More

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November 2018

Chanarin-Dorfman syndrome.

Turk J Gastroenterol 2018 Nov 16. Epub 2018 Nov 16.

Department of Medical Genetics, Marmara University School of Medicine, İstanbul, Turkey.

Chanarin Dorfman syndrome is a multisystem, very rare, autosomal recessive lipid storage disorder, characterized by the accumulation of lipid vacuoles in neutrophils, and was first described by Dorfman in 1974. Due to a mutation in the ABHD5 gene of the short arm of chromosome 3, lipid is stored in the granulocytes at various sites in the human body, such as the muscle, liver, eye, ear, central nervous system, and bone marrow. Clinically, the disease is presented with ichthyosis, hearing loss, hepatomegaly, splenomegaly, cirrhosis, cataract, keratopathy, myopathy, and mental retardation. Read More

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November 2018
4 Reads

Selective rickets from localized advanced maturation-a case report.

Authors:
Alan E Oestreich

Skeletal Radiol 2018 Nov 20. Epub 2018 Nov 20.

Department of Radiology ML 5031, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH, 45229-3039, USA.

An unusual cause of rickets is illustrated by a patient with infantile multisystem inflammatory disease who, by age 2 years and 4 months, developed striking radiographic and clinical rickets restricted to those joints involved by the inflammatory process. The locally increased vascularity from his inflammation led to increased maturation at those sites so rapid as to override the usual enchondral calcification, thus causing a rickets pattern. Other sites, such as the proximal humeri, lacking any inflammation, showed no increased maturation rate and did not manifest local rickets. Read More

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November 2018
1 Read

Continuous low-dose everolimus shrinkage tuberous sclerosis complex-associated renal angiomyolipoma: a 48-month follow-up study.

J Investig Med 2018 Nov 18. Epub 2018 Nov 18.

School of Medicine, Chung Shan Medical University, Taichung, Taiwan.

Tuberous sclerosis complex (TSC) is a rare disease that causes multisystem benign neoplasm, induced by dysregulation of the mammalian target of the rapamycin pathway (mTOR). This study aimed to examine the effects of continuous low-dose everolimus, a potent and selective inhibitor of mTOR, on the treatment of TSC-associated renal angiomyolipoma (AML). Between July 2013 and August 2017, 11 patients with TSC-AML were enrolled for an everolimus therapy protocol. Read More

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November 2018
3 Reads

Recent trends in mucopolysaccharidosis research.

J Hum Genet 2018 Nov 19. Epub 2018 Nov 19.

Division of Gene Therapy, Research Center for Medical Sciences, Department of Pediatrics, The Jikei University School of Medicine, Tokyo, 105-8461, Japan.

Mucopolysaccharidosis (MPS) is a group of inherited conditions involving metabolic dysfunction. Lysosomal enzyme deficiency leads to the accumulation of glycosaminoglycan (GAG) resulting in systemic symptoms, and is categorized into seven types caused by deficiency in one of eleven different enzymes. The pathophysiological mechanism of these diseases has been investigated, indicating impaired autophagy in neuronal damage initiation, association of activated microglia and astrocytes with the neuroinflammatory processes, and involvement of tauopathy. Read More

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November 2018
1 Read

Optimal care for systemic sclerosis patients: recommendations from a patient-centered and multidisciplinary mixed-method study and working conference.

Clin Rheumatol 2018 Nov 17. Epub 2018 Nov 17.

Department of Rheumatology, Radboud University Medical Center, Nijmegen, The Netherlands.

Introduction: Systemic sclerosis (SSc) is a chronic autoimmune disease with multiorgan involvement.

Objective: Identify preferences and priorities among patients and health care professionals regarding care for SSc patients in The Netherlands. Develop ideas to improve quality of care. Read More

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November 2018
3 Reads

Amyotrophic lateral sclerosis - a multisystem neurodegenerative disorder.

Authors:
Murray Grossman

Nat Rev Neurol 2018 Nov 16. Epub 2018 Nov 16.

Penn Frontotemporal Degeneration Center and Department of Neurology, University of Pennsylvania, Philadelphia, PA, USA.

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November 2018
7 Reads

Anti-tumor necrosis factor agents in sarcoidosis: A systematic review of efficacy and safety.

Semin Arthritis Rheum 2018 Oct 16. Epub 2018 Oct 16.

Department of Dermatology, Keck School of Medicine, University of Southern California, Los Angeles, CA, United States. Electronic address:

Background: Though anti-tumor necrosis factor agents (anti-TNFs) have been recommended as third-line therapy for sarcoidosis, an up-to-date systematic synthesis of their efficacy and safety is lacking.

Objectives: To systematically review the literature to characterize the efficacy and safety of anti-TNFs in sarcoidosis.

Settings: All countries and treatment settings were included. Read More

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October 2018
2 Reads
3.925 Impact Factor

Optimizing Neurocritical Care Follow-Up Through the Integration of Neuropsychology.

Pediatr Neurol 2018 Dec 18;89:58-62. Epub 2018 Sep 18.

Doernbecher Children's Hospital/Oregon Health and Science University, Division of Child Neurology, Portland, Oregon.

Background: Pediatric critical care survivors often suffer persisting multisystem health problems and are left with treatment needs that go unmet due to limits in current care models. We proposed that integration of neuropsychology into neurocritical care follow-up provides incremental benefit to the identification and treatment of persisting complications and reduction in co-morbidities.

Basic Procedures: The aims of this study were three-fold. Read More

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December 2018
3 Reads