UNASSIGNED: Disorders of consciousness (DOC) are neurocognitive disorders related to sharp fluctuations of attention and consciousness, while DOC is characterized by significant interindividual differences, rapid development, and a higher lethal rate.
UNASSIGNED: A 53-year-old female patient underwent general anesthesia with tracheal intubation in otoendoscopic tympanoplasty. The patient suddenly appeared moderate DOC after tracheal tube removal with K+ 3.6 (3.5-5.3 mmol/L). Based on the ancillary testing and routine laboratory workup, the possible causes of DOC, such as general anesthesia drugs and cardio cerebral events, were temporarily excluded. DOC was reversed by intravenous administration of KCl 1 g, with K+ 3.78 mmol/L. On one day after surgery, the patient occurred suddenly DOC again after intravenous guttae of 5% glucose 1000 ml, K+ 3.87 mmol/L, possibly because of her recurrent hypokalemic paralysis (HP) of past medical history. The patient\'s consciousness gradually improved after effective KCl supplementation therapy.
UNASSIGNED: DOC caused by periodic paralysis (PP) has not been reported, we speculate that hypoactive DOC is closely correlated with normokalemic periodic paralysis (NormoPP) in this case.

Thyrotoxic myopathy is hyperthyroidism accompanied by muscle lesions. It is recognized as the general term for a group of symptoms with several main manifestations of several hyperthyroidism patients in the course (e.g. muscle weakness, muscle paralysis, or pain). From the clinical perspective, it may only be manifested as muscle-related symptoms. The symptoms of high metabolic syndrome (e.g. thyrotoxicosis) are absent, obscured, or relatively delayed, so it can be easily misdiagnosed. Accordingly, patients experiencing the first symptom of myopathy should concentrate on the possibility of thyrotoxic myopathy. Given the clinical characteristics, thyrotoxic myopathy can be devided into chronic thyrotoxic myopathy, thyrotoxicosis with periodic paralysis, acute thyrotoxic myopathy, hyperthyroidism with myasthenia gravis, as well as infiltrating exophthalmos with ophthalmoplegia. In this paper, we review thyrotoxic myopathy research status, diagnoses, and treatments.

Hypothyroid myopathy is a skeletal muscle disease caused by hypothyroidism. However, patients with hypothyroidism are often misdiagnosed as polymyositis if they do not have a clear history of thyroid gland or obvious hypometabolic symptoms, but with myasthenia and myalgia as the main symptoms or the first symptoms. Moreover, hypothyroid myopathy with periodic paralysis as the first symptom is rare in clinic. In this study, we summarized the clinical data of 1 case of hypothyroid myopathy with periodic paralysis as the first symptom in our clinical diagnosis and treatment. A 27-year-old male patient with recurrent periodic paralysis was found with hypothyroidism during a most recent attack of myasthenia and was diagnosed with hypothyroid myopathy, which was relieved after oral administration of levothyroxine. We also found 13 similar cases reported internationally, and summarized their clinical characteristics, diagnosis, and treatment methods to provide reference for the clinical diagnosis and treatment of such cases. In general, periodic paralysis may be the main symptom or even the first symptom of hypothyroid myopathy, which is easy to be confused with renal tubular acidosis (RTA) or other autoimmune diseases. The diagnosis is mainly based on the detection of thyroid function and thyroid autoantibodies. Timely supplement of thyroxine and correction of electrolyte disorders are the key to treatment.

Andersen-Tawil syndrome (ATS) is a rare multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias, and developmental dysmorphology. There are few reports concerning ATS in the Chinese population. We analyzed clinical features and evaluated the long exercise test as a tool for diagnosis of periodic paralysis in ATS.
Direct sequencing of KCNJ2 was performed in 12 subjects from mainland China with suspected ATS. Clinical features, therapeutic responses, and long exercise tests (LET) were retrospectively analyzed.
Twelve patients were genetically confirmed to have ATS. A small mandible and clinodactyly were demonstrated in all patients. Premature ventricular contractions were the most prevalent form of cardiac arrhythmia. The LET revealed an early amplitude decrement.
Chinese ATS patients shared some common clinical features with reported subjects in other countries. An early amplitude decrement in LET may be useful for diagnosis of ATS. Muscle Nerve 54: 1059-1063, 2016.

暂无摘要。

BACKGROUND: We have developed a rare disease center in China.
METHODS: In this study we analyzed how patients with periodic paralysis accessed centers in China vs. in the USA and UK.
RESULTS: A total of 116 patients with periodic paralysis were evaluated in Beijing and Hangzhou (2003-2012). These patients traveled long distances for outpatient specialist care without an appointment or physician referral. In contrast, at the University of Rochester in the USA, >90% of patients were referred from physicians throughout the country by identifying physician expertise or by referrals from a patient advocacy group. In the UK, a single center, supported by the National Health Service, provides assessment/genetic testing for all UK patients.
CONCLUSIONS: Rare disease centers in China require: (1) establishing a center for clinical characterization of the disease (e.g., periodic paralysis); (2) establishing a genetic diagnostic platform; (3) placing the center at a major city hospital; and (4) facilitating patient access through internet websites.