OBJECTIVETo investigate the clinical and laboratory features of very long chain acyl-CoA dehydrogenase deficiency ( VLCADD ) and the correlations between its genotype and phenotype.

METHODEleven patients diagnosed as VLCADD of Shanghai Jiaotong University School of Medicine seen from September 2006 to May 2014 were included. There were 9 boys and 2 girls, whose age was 2 d-17 years. Analysis was performed on clinical features, routine laboratory examination, and tandem mass spectrometry (MS-MS) , gas chromatography mass spectrometry (GC-MS) and genetic analysis were conducted.

RESULTAll cases had elevated levels of blood tetradecanoylcarnitine (C14:1) recognized as the characteristic biomarker for VLCADD. The eleven patients were classified into three groups: six cases in neonatal onset group, three in infancy onset group form patients and two in late onset group. Neonatal onset patients were characterized by hypoactivity, hypoglycemia shortly after birth. Infancy onset patients presented hepatomegaly and hypoglycemia in infancy. The two adolescent patients showed initial manifestations of exercise intolerance or rhabdomyolysis. Six of the eleven patients died at the age of 2-8 months, including four neonatal onset and two infant onset patients, with one or two null mutations. The other two neonatal onset patients were diagnosed since early birth through neonatal screening and their clinical manifestation are almost normal after treatments. Among 11 patients, seventeen different mutations in the ACADVL gene were identified, with a total mutation detection rate of 95.45% (21/22 alleles), including eleven reported mutations ( p. S22X, p. G43D, p. R511Q, p. W427X, p. A213T, p. C215R, p. G222R, p. R450H, p. R456H, c. 296-297delCA, c. 1605 + 1G > T) and six novel mutations (p. S72F, p. Q100X, p. M437T, p. D466Y, c. 1315delG insAC, IVS7 + 4 A > G). The p. R450H was the most frequent mutation identified in three alleles (13.63%, 3/22 alleles), followed by p. S22X and p. D466Y mutations which were detected in two alleles (9.09%, 2/22 alleles).

CONCLUSIONThe ACADVL gene mutations were heterozygous in our patients. The mortality of neonatal onset form and infant onset form is much higher than the late onset form patients, suggesting a certain correlation between the genotype and phenotype was found. The earlier diagnosis and treatment of VLCADD are of vital importance for the improvement of the prognosis of the patients.

Acyl-CoA Dehydrogenase, Long-Chain ; deficiency ; genetics ; Adolescent ; Age of Onset ; Alleles ; Asian Continental Ancestry Group ; Child ; Child, Preschool ; China ; Female ; Genetic Testing ; Genotype ; Heterozygote ; Humans ; Infant ; Infant, Newborn ; Lipid Metabolism, Inborn Errors ; complications ; genetics ; Male ; Mitochondrial Diseases ; complications ; genetics ; Muscular Diseases ; complications ; genetics ; Mutation ; Neonatal Screening ; Phenotype ; Prognosis ; Rhabdomyolysis ; etiology ; Spectrum Analysis ; Tandem Mass Spectrometry

Telbivudine is an L-nucleoside analogue with potent antiviral activity against hepatitis B virus (HBV). Clinical trials have shown that telbivudine has a more potent and sustained antiviral activity with a lower frequency of viral resistance than lamivudine. Although there are several reports concerning the safety profile of telbivudine, most adverse events are described as mild and transient in nature. Here we report two cases of telbivudine-induced myopathy in patients with chronic hepatitis B who were siblings.
Adult ; Antiviral Agents/adverse effects/*therapeutic use ; Creatine Kinase/blood ; Electromyography ; Hepatitis B, Chronic/*drug therapy/metabolism/pathology ; Humans ; Male ; Muscle, Skeletal/pathology ; Muscular Diseases/etiology ; Siblings ; Thymidine/adverse effects/*analogs & derivatives/therapeutic use

OBJECTIVETo analyze the clinical characteristics and effects of rehabilitation treatment on hemophiliacs with iliopsoas hemorrage.

METHODSThe hemophilia patients with iliopsoas bleeding treated in Peking Union Medical College Hospital between January 2006 to December 2010 were enrolled. The clinical characteristics including symptoms, signs, complications, and rehabilitation treatment were analyzed retrospectively.

RESULTSAll of the forty-one hemophiliacs with iliopsoas bleeding were male, 20 cases wee the left bleeding, 18 the right, and 3 the bilateral. The median median age was 18 (6 - 61) years old(y). The median age of the iliopsoas bleeding for the first time was 17 (6 - 20) y. 34 patients accompanied with femoral nerve injury, 19 of them had secondary knee bleeding on the same side. 20 patents had quadriceps atrophy. Pelvic pseudotumor developed in 2 patients and permanent abnormal posture in 2 patients. The main finding of the ultrasound image was low-echo mass in iliopsoas muscles or inguinal region. 34 patients received rehabilitation therapy for 8 - 12 weeks under the support of factor replacement, complete hematomas absorption in 33 of them, with hip range of motion recovering back to baseline. 27 of 32 (84.4%) cases with femoral nerve injury got quadriceps strength above 4/5 grade, 20 cases of femoral nerve injury (62.5%) still had numbness on front of their thigh after treatment.

CONCLUSIONSIn this cohort of iliopsoas bleeding, most of the patients are adolescent. High prevalence of the femoral nerve injury and the secondary knee bleeding are found. Rehabilitation treatment under the support of factor replacement is safe and effective on hematoma absorption and neurological function recovery.

Adolescent ; Adult ; Child ; Hematoma ; etiology ; rehabilitation ; Hemophilia A ; complications ; rehabilitation ; Hemorrhage ; etiology ; rehabilitation ; Humans ; Male ; Middle Aged ; Muscular Diseases ; diagnosis ; etiology ; rehabilitation ; Psoas Muscles ; physiopathology ; Retrospective Studies ; Young Adult

Hypothyroidism can cause a variety of signs and symptoms of the neuromuscular system. However, ptosis in a patient with hypothyroidism is very rare. We report here on a case of central hypothyroidism that was due to Sheehan's syndrome and it manifested as bilateral ptosis in a 51-yr-old woman. She complained of exertional dyspnea and weakness. About 25-yr ago, she had a history of severe postpartum vaginal bleeding. The laboratory studies demonstrated hypopituitarism with secondary hypothyroidism. The ptosis was improved by replacement of thyroid hormone. Hypothyroidism should be considered in the differential diagnosis of patients who manifest with ptosis and that prompt replacement of hormone can lead to a complete recovery.
Blepharoptosis/complications/*diagnosis/drug therapy ; Electromyography ; Female ; Glucocorticoids/therapeutic use ; Humans ; Hypopituitarism/complications/*diagnosis/drug therapy ; Hypothyroidism/complications ; Magnetic Resonance Imaging ; Middle Aged ; Muscular Diseases/etiology ; Neuromuscular Junction/physiopathology ; Prednisolone/therapeutic use ; Thyroxine/therapeutic use

Calcific myonecrosis is a rare late post-traumatic condition, in which a single muscle is replaced by a fusiform mass with central liquefaction and peripheral calcification. Compartment syndrome is suggested to be the underlying cause. The resulting mass may expand with time due to recurrent intralesional hemorrhage into the chronic calcified mass. A diagnosis may be difficult due to the long time between the original trauma and the symptoms of calcific myonecrosis. We encountered a 53-year-old male patient diagnosed with calcific myonecrosis in the lower leg. We report the case with a review of the relevant literature.
Calcinosis/*diagnosis/etiology/pathology ; Compartment Syndromes/complications ; Humans ; *Leg ; Male ; Middle Aged ; Muscle, Skeletal/pathology ; Muscular Diseases/*diagnosis/etiology/surgery ; Necrosis

Cardiac Pacing, Artificial ; adverse effects ; Diaphragm ; Female ; Humans ; Muscular Diseases ; etiology ; Pacemaker, Artificial ; Young Adult

Aged ; Creatine Kinase ; blood ; Female ; Humans ; Hypothyroidism ; complications ; Muscular Diseases ; etiology ; Rhabdomyolysis ; etiology ; Thyrotropin ; blood

A 51-year old man presented with vertical and torsional diplopia after reduction of a blowout fracture at another hospital one year ago. He had no anormalies of head position and 14 prism diopters (PD) right hypertropia (RHT) in the primary position. In upgaze no vertical deviation was found, and hyperdeviation on downgaze was 35PD. Bielschowsky head tilt test showed a negative response. Distinct superior oblique (SO) and inferior rectus (IR) underaction of the right eye was noted but IO overaction was mild on the ocular version test. Double Maddox rod test (DMRT) revealed 10-degree extorsion, but fundus extorsion was minimal in the right eye.Thin-section coronal CT scan showed that there was no fracture line on the anterior orbital floor, but a fracture remained on the posterior orbital floor. Also, the anterior part of the right inferior oblique muscle was vertically reoriented and the medial portion of the inferior oblique muscle was not traced on the coronal CT scan. The patient underwent 14 mm right IO recession and 3 mm right IR resection. One month after the surgery, his vertical and torsional diplopia were eliminated in the primary position.
Constriction, Pathologic/complications/etiology/physiopathology/radiography ; Diplopia/etiology ; Humans ; Male ; Middle Aged ; Muscular Diseases/complications/etiology/*physiopathology/*radiography ; Oculomotor Muscles/*physiopathology/*radiography/surgery ; Orbital Fractures/*complications ; *Tomography, X-Ray Computed

OBJECTIVEThis study was undertaken to investigate the clinical features of oral motor dysfunction and feeding problems as well as the nutritional status of children with cerebral palsy (CP).

METHODSFifty-nine CP children, 39 boys and 20 girls, mean age 31 months (20 to 72 months), were recruited. Their parents were interviewed for high risk factors and feeding history. Each case was assessed for oral motor and feeding problems based on oral motor and feeding skill score; for nutritional status by measurement of weight, height; neurologically for type of cerebral palsy and for developmental age by Gesell's developmental scale. Equal number of age and sex matched controls were included for comparison of nutritional status, oral motor and feeding skill score.

RESULTSAmong 59 patients, 51 cases had oral motor dysfunction and 55 cases had feeding problems including all athtosis, spastic tetraplegia, and 16 had spastic diplegia. The scores of both the mean oral motor function and feeding skill of CP children were significantly lower than those of the controls (P < 0.001). Main food of children with cerebral palsy consisted of liquid and semisolid diet. Body weight and height below the 25th percentile were found in 13 cases and 19 cases, respectively.

CONCLUSIONSThe majority of the children with cerebral palsy had oral motor dysfunction and feeding problems which appeared in early age and disturbed the growth and nutritional status. Thorough assessment for oral motor function, feeding problems and nutritional status of CP children is indicated in order to start timely rehabilitation and nutritional interventions which can significantly improve their nutritional status and quality of life.

Cerebral Palsy ; complications ; physiopathology ; Child ; Child, Preschool ; Feeding and Eating Disorders of Childhood ; etiology ; physiopathology ; Female ; Humans ; Infant ; Male ; Mouth ; physiopathology ; Mouth Diseases ; etiology ; physiopathology ; Muscular Diseases ; etiology ; physiopathology ; Nutritional Status

Piriformis syndrome, a term applied to an abnormal condition of the piriformis muscle, is characterized by symptoms and signs due to sciatic nerve entrapment at the greater sciatic notch. Recently we reviewed a case of unusual low back pain, radiating to the left lower extremity with tenderness particular in the left buttock. The patient was successfully treated by sectioning the piriformis tendon. We described the clinical features of a case of piriformis syndrome and reviewed the foreign literature.
Human ; Male ; Middle Aged ; Muscular Diseases/*etiology ; Nerve Compression Syndromes/*etiology ; *Sciatic Nerve