[PDF] Top 20 Alström syndrome: current perspectives

... exciting perspectives are opening up to determine the biological role of ALMS1, but further investigation is required to turn this information into real options to achieve treatments for ALMS ... See full document

... nephrotic syndrome following transplantation. Recurrence of nephrotic syndrome, if not controlled, can cause delayed graft function, acute rejection, and diminished allograft ... See full document

... The clinical features of BCS show considerable overlap with other collagen disorders 4,28 known to have ocular associations, most notably the kyphoscoliotic form of EDS and Stickler syndrome. Both sensorineural ... See full document

... Abstract: Cholesterol-embolization syndrome (CES) is a multisystemic disease with various clinical manifestations. CES is caused by embolization of cholesterol crystals (CCs) from athero- sclerotic plaques located ... See full document

... Tremor Syndrome (ITS) is a self-limiting clinical state characterized by tremors, anemia, pigmentary skin disease, regression of mental development, and hypotonia of muscles in a plump looking ... See full document

... abdominal wall circumference and/or oligohydramnios may not be consistently identi fi ed until later in pregnancy. 24 Differential diagnosis includes causes of LUTO including posterior urethral valves, ureterocele and ... See full document

... Sjögren’s syndrome is a multifactorial disease that results in dysfunc- tion of the lacrimal functional ...The current study reviews details of immune response and anti–inflammatory therapies used to ... See full document

... CRS represents a potentially serious complication of CART therapy. It is a cytokine-mediated systemic in fl am- matory response which occurs in concert with in vivo CART activation and expansion. 6 The exact mechanism of ... See full document

... Vogt–Koyanagi–Harada syndrome is a cause of noninfectious panuveitis, leading to significant vision loss in many ...the current knowledge on the variable clinical aspects of this disease, highlighting ... See full document

... the syndrome now allows proper management to be designed to avoid obesity, through the introduction of a low-calorie and well-balanced diet together with appropriate psychological and behavioral counseling for the ... See full document

... Abstract: For individuals with Down syndrome (DS), obstructive sleep apnea (OSA) is a complex disorder with significant clinical consequences. OSA is seen frequently in DS, and when present, it tends to be more ... See full document

... Several articles have been published on the short- and long-term effects of PCOS on the women’s health due to an increased incidence of early complications such as a worsen- ing of fertility and obstetric outcomes and to ... See full document

... group was due to comorbidity and not due to severity of the infection itself. It could be speculated that publication bias plays an important role when trying to estimate the mortality in this rare syndrome. It ... See full document

... (WHIM) syndrome, present in approximately one-third of patients with WM, has fundamentally changed our understanding of this disease and expanded the potential therapeutic ...as current and emergent ... See full document

... 88. Salminen A, Rimpilä V, Polo O. Peripheral hypoxia in restless legs syn- drome (Willis-Ekbom disease). Neurology. 2014;82(21):1856–1861. 89. Salminen AV, Rimpilä V, Polo O. Pramipexole alters thermoregulation in ... See full document

... Metabolic syndrome (MetS) is increasing in incidence and lead to significance cardiovascular disease (CVD) and ...metabolic syndrome are known as risk factors for incident cancer disease, but it is not ... See full document

... mobility syndrome is that although there has been general consistency in the six factors included in the classification, there have been somewhat varied approaches to ascertaining the presence or absence of the ... See full document

... exaggerated HR response is defined as a sustained increment > 30 beats per minute (bpm) in adults, or > 40 bpm in children, that occurs within 10 minutes of standing. The nonspecific nature of symptoms, bell curve ... See full document

... TAFRO syndrome is a recently established, distinct variant of HHV8-negative MCD with an autoimmune ...TAFRO syndrome by identifying biomarkers, pathophysiology, etiology, and treatment strategies based on ... See full document

... MF syndrome, with a well-defined and statisti- cally significant positive correlation between plasma protein carbonyl content as an expression of reactive oxygen species and clinical involvement (according to ... See full document