myasthenia gravis (mg) is a disorder of the neuromuscular junction. in children, the disease may be congenital or due to an autoimmune process. clinical manifestations may be purely ocular or may include generalized weakness, fatigability, dysphagia, and disorders of speech. in this article, 27 children (14 female, 13 male) were prospectively studied from birth to age fifteen. disease presentat...

The study of inherited metabolic disorders (IMD) in Thailand is in its infancy when compare with developed countries. Prior to 1987, majority of these disorders were clinically diagnosed since there were only a handful of clinicians and scientists with expertise in inborn errors of metabolism, lack of well-equipped laboratory facilities and government support. In developing countries, inherited...

Hypothyroidism is a condition in which there are low concentrations of thyroid hormones in the blood. It is one of the most common hormonal disorders in dogs, but rare in cats. Thyroid hormone is important for the normal regulation of metabolic rate and activity in many tissues and a deficiency of the hormone results in reduced metabolic activity and abnormal changes in many organ systems. If p...

The newborn screening (NBS) programme is a complex and organised system consisting of family and personal education, biochemical tests, confi rmatory biochemical and genetic tests, diagnosis, therapy, and patient follow-up. The programme identifi es treatable metabolic disorders, possibly when still asymptomatic, by using dried blood spot (DBS). Over the last 20 years, tandem mass spectrometry ...

Congenital haemolytic anaemias are hereditary conditions resulting from an increase in the rate of red cell destruction.1 Four main types of red cell abnormality can cause haemolysis: • cytoskeletal membrane disorders (eg hereditary spherocytosis (HS), hereditary elliptocytosis (HE), hereditary pyropoikilocytosis (HPP)) • disorders of membrane cation transport (eg hereditary stomatocytosis) • e...

OBJECTIVE This article discusses how ribs are involved in a variety of traumatic, metabolic, inflammatory, neoplastic, and congenital disorders. CONCLUSION We review the normal anatomy pertinent to rib imaging and illustrate the key features of a variety of rib lesions, emphasizing the diagnostic value of CT.

Heterotopic ossification (HO), deposition of para-articular ectopic bone, is associated with musculoskeletal trauma and certain congenital and metabolic disorders. Additionally, HO may follow paralysis from diverse traumatic and nontraumatic neurologic insults. We describe three cases of HO associated with catastrophic nontraumatic respiratory illness requiring prolonged chemical paralysis and ...

The final diagnosis of 158 patients who had a cerebrospinal fluid (CSF) lactate concentration greater than 2 mmol/l was ascertained. The conditions included seizures, inflammatory changes, and proven metabolic disorders. For the diagnosis of congenital lactic acidoses, CSF lactate should ideally be measured in a seizure free patient after any acute illness.

The aetiology based classification of pericardial disease comprises: infectious pericarditis; pericarditis in systemic autoimmune diseases; type 2 (auto)immune pericarditis; metabolic disorders; trauma; tumours; pericardial cysts; and congenital defects. This classification has major therapeutic consequences that will be elaborated upon in this article, with the focus on practical management of...