有针对性的问卷改善了在患有法布里病的幼儿中检测早期胃肠道症状的方法

Anika Quillin1, Hannah Waddel2, Gwen Gunn3

  • 1Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA. alind22@emory.edu.

PubMed
概括

有针对性的问卷有效地检测到患有法布里病 (FD) 的儿童的早期胃肠道症状,这些症状可能会在例行儿科医生诊所中错过. 这些工具有助于早期识别FD,这对于及时启动治疗至关重要.

相关概念视频

Chronic Obstructive Pulmonary Disease-III: Symptoms and Complications.01:25

Chronic Obstructive Pulmonary Disease-III: Symptoms and Complications.

Understanding the variety of primary symptoms and systemic complications that characterize chronic obstructive pulmonary disease (COPD) is crucial for healthcare professionals.
Symptoms of COPD can be classified as primary or systemic. Primary symptoms relate to reduced airflow, while systemic or extrapulmonary symptoms relate to COPD's broader impact on the body.
Primary Symptoms of COPD:
3.6K
Anatomy of the Gastrointestinal System01:26

Anatomy of the Gastrointestinal System

The human digestive system is an intricate and essential network for nutrient absorption and waste elimination. It encompasses the gastrointestinal (GI) tract and several accessory organs.
Here's a detailed walkthrough of this complex system:
2.6K
Diabetes: Symptoms, Diagnosis, and Complications01:15

Diabetes: Symptoms, Diagnosis, and Complications

For most patients, experiencing several weeks of polyuria, polydipsia, fatigue, and significant weight loss may indicate the presence of diabetes. Furthermore, adults displaying the phenotypic appearance of type 2 diabetes (particularly those who are obese and not initially insulin-requiring), may have islet cell autoantibodies, suggesting autoimmune-mediated β cell destruction and a diagnosis of latent autoimmune diabetes of adults (LADA). The categorization of glucose homeostasis is...
2.1K
Negative and Cognitive Symptoms of Schizophrenia01:30

Negative and Cognitive Symptoms of Schizophrenia

Negative symptoms of schizophrenia indicate a reduction or absence of typical behaviors and emotional responses found in healthy individuals, while positive symptoms reflect an excess or distortion of normal functioning.
Negative Symptoms
Negative symptoms of schizophrenia manifest as deficits in normal emotional and behavioral functioning, profoundly impacting daily life. Individuals with schizophrenia often display a flat affect, characterized by a near-total absence of emotional expression,...
488
Histology of the Gastrointestinal (GI) Tract01:20

Histology of the Gastrointestinal (GI) Tract

The GI tract, from beginning to end, is made up of four continuous tissue layers that adjust their structure according to their specific roles. These layers, from innermost to outermost, are known as the mucosa, submucosa, muscularis, and serosa, which are continuous with the mesentery.
The mucosa is sometimes called a mucous membrane due to its mucus-secreting features. This membrane is composed of epithelium, which directly interacts with ingested substances, and the lamina propria, a layer...
3.3K
Gastrointestinal Motility Disorders01:20

Gastrointestinal Motility Disorders

Gastrointestinal or GI motility disorders are characterized by irregular gastrointestinal tract movements, disrupting food transit from the mouth to the anus. They are caused by damage or dysfunction in gut muscles or nerves. These disorders can cause symptoms such as severe constipation, diarrhea, abdominal pain, and swallowing difficulties. Disorders can affect any segment of the GI tract and range widely in severity, from common conditions like GERD to life-threatening conditions like...
1.2K