Published in Cureus
The majority of patients with paratesticular rhabdomyosarcoma (RMS) present in the pediatric age group with a unilateral, painless, palpable scrotum mass. By contrast, cases of RMS presenting as painful edema are rare. We present a case of alveolar paratesticular RMS in a 30-year-old man who had been suffering from a painful swelling of the scrotum...
Published in Chinese Journal of Reparative and Reconstructive Surgery
目的 评估幼年发病型强直性脊柱炎（juvenile-onset ankylosing spondylitis，JAS）接受人工全髋关节置换术（total hip arthroplasty，THA）的中期临床随访结果。 方法 回顾性分析2004年1月—2018年3月的81例（127髋）JAS患者（年龄≤16岁，JAS组）和267例（391髋）成年发病型强直性脊柱炎（adult-onset ankylosing spondylitis，AAS）患者（年龄>16岁，AAS组）行THA手术重建的临床随访结果。常规收集患者术前基线人口学数据、临床参数、影像学参数和实验室数据；术前及末次随访时评价指标包括疾病整体活动度 ［巴氏强直性脊柱炎疾病活动指数（Bath ankylosing spondyliti...
Published in Cancer Diagnosis & Prognosis
Background Langerhans cell histiocytosis (LCH) is a rare disease, especially in adults. It is often associated with non-fatal bone and skin lesions and has relatively good radiosensitivity. In contrast, brain and lymph node metastases from LCH lesions are considered to be less sensitive to radiotherapy. Case Report At our institution, 30 Gy radioth...
Hyperammonaemic encephalopathy in adults is a rare condition in the absence of liver disease and is associated with a high mortality and risk of permanent neurological deficits. Seldomly, the condition is caused by an inborn error of metabolism in the urea cycle, triggered by an exogenic factor such as gastrointestinal haemorrhage, gastric bypass s...
Published in Cureus
Dermatomyositis (DM) is a relatively uncommon inflammatory myopathy that has been linked to cancer. We report the case of an 81-year-old woman with cecum adenocarcinoma presenting with antinuclear antibody (ANA) and anti-Mi-2-alpha antibody-positive DM. The patient complained of anorexia, symmetric proximal muscle weakness and skin rash and present...
Published in Drug and alcohol review
This paper compares consequences of cannabis use initiated after high school with those of cannabis initiation in adolescence, with estimates of the proportion of adverse consequences accounted for by adult-onset and adolescent-onset cannabis users. A state-representative sample in Victoria, Australia (n = 1792) participated in a 10-wave longitudin...
Published in Cell reports
Oligodendrocytes (OLs) are important for myelination and shuttling energy metabolites lactate and pyruvate toward axons through their expression of monocarboxylate transporter 1 (MCT1). Recent studies suggest that loss of OL MCT1 causes axonal degeneration. However, it is unknown how widespread and chronic loss of MCT1 in OLs specifically affects n...
Published in Frontiers in Neurology
Metachromatic leukodystrophy (MLD) is an autosomal recessive hereditary disorder characterized by the accumulation of sulfatide in the central and peripheral nervous systems. Herein, we present the case of an adult patient with MLD who had mild cognitive and psychiatric dysfunctions and severe vision disturbance, who was initially misdiagnosed as m...
Published in Frontiers in Neurology
Krabbe disease (KD), also referred to as globoid cell leukodystrophy, is a rare autosomal recessive lysosomal storage disorder caused by β-galactocerebrosidase (GALC) deficiency. Most patients affected by this disease are infants, and
Published in American journal of kidney diseases : the official journal of the National Kidney Foundation
There is increasing appreciation of nephronophthisis (NPHP) as an autosomal recessive cause of kidney failure and earlier stages of chronic kidney disease among adults. We identified 2 families with presumed adult-diagnosed nonsyndromic NPHP and negative diagnostic genetic testing results from our Renal Genetics Clinic. Both had 2 affected siblings...
