Anesthesia ; methods ; Humans ; Male ; Middle Aged ; Muscle Hypotonia ; etiology ; Stiff-Person Syndrome ; complications ; physiopathology ; Thymoma ; surgery ; Thymus Neoplasms ; surgery

Congenital myotonic dystrophy type 1 (DM1) presents severe generalized weakness, hypotonia, and respiratory compromise after delivery with high mortality and poor prognosis. We presented a congenital DM1 of premature twins in the 30th week of gestation. These twins were conceived by in vitro fertilization (IVF). Both babies presented apnea and hypotonia and had characteristic facial appearance. They were diagnosed DM1 by genetic method. They were complicated by chylothorax and expired at 100 and 215 days of age, respectively. Mother was diagnosed DM1 during the evaluation of babies. This is the first report on congenital DM1 which accompanied the chylothorax. More investigation on the association with chylothorax and congenital DM1 is recommended. With a case of severe neonatal hypotonia, congenital DM1 should be differentiated in any gestational age. Finally, since DM1 is a cause of infertility, we should consider DM1 in infertility clinic with detailed history and physical examination.
Adult ; Apnea/etiology ; Blotting, Southern ; Chylothorax/complications ; Female ; Fertilization in Vitro ; Humans ; Infant, Newborn ; Infant, Premature ; Microsatellite Repeats/genetics ; Muscle Hypotonia/etiology ; Myotonic Dystrophy/complications/*diagnosis/radiography ; Twins

OBJECTIVETo evaluate the clinical value of the comprehensive therapy of acupuncture, Chinese herbal medicine and rehabilitation in the treatment of post-stroke flaccid limb dysfunction.

METHODSThe four-center, single-blind, randomized and controlled research method was adopted, 240 qualified subjects were randomized into a comprehensive therapy group, an acupuncture group, a rehabilitation group and a Chinese herbal medicine group, 60 cases in each one, at the ratio of 1 1. In the comprehensive therapy group, the comprehensive therapy of acupuncture, Chinese herbal medicine and rehabilitation was applied. The acupuncture therapy included the scale acupuncture at middle line of vertex, lateral line 1 of vertex, lateral line 2 of vertex, etc. with the single reinforcing and reducing technique by the speed of needle insertion and withdrawal, and the body acupuncture therapy at the acupoints on the antagonistic muscles with the reinforcing and reducing technique by the needle rotation. The Chinese herbal medicine therapy included No. 1 stroke formula for the cases of liver and kidney yin deficiency and the upward disturbance of wind yang, No. 2 stroke formula for qi deficiency and blood stagnation, and the stagnation in meridians and No. 3 stroke formula for the interaction of phlegm and stasis and blockage of meridians according to the pattern/syndrome differentiation. The rehabilitation therapy focused on the promotion technique by putting the healthy limb. The simple acupuncture, rehabilitation and Chinese herbal medicine therapies as the comprehensive therapy group were applied in the acupuncture group, rehabilitation group and Chinese herbal medicine group separately. The Chinese medicine symptom, the limb motor function, the daily life activity, fainting needle reaction, allergic reaction and the others were taken as indices to evaluate the efficacy and safety of the treatment.

RESULTS(1) The results of the four indices named the Chinese medicine symptom, the limb motor function, the limb balance function, the daily life activity were all improved significantly after treatment as compared with those before treatment in four groups (all P < 0.01). (2) Concerning to the improvement degrees, the improvements of the above four indices in the comprehensive therapy group were more significant than those in the other three groups (P < 0.01, P < 0.05). The improvement in Chinese medicine symptom in the acupuncture group and the Chinese herbal medicine group were more significant than that in the rehabilitation group (both P < 0.05). The improvement of the upper limb motor function in the acupuncture group was more significant than that in the rehabilitation group and the Chinese herbal medicine group separately (both P < 0.05).

CONCLUSIONThe comprehensive therapeutic program of acupuncture, Chinese herbal medicine and rehabilitation is safe and effective in the treatment of post-stroke flaccid limb dysfunction. It is more advantageous in efficacy as compared with any simple therapy.

Activities of Daily Living ; Acupuncture Points ; Acupuncture Therapy ; Adult ; Aged ; Drugs, Chinese Herbal ; therapeutic use ; Female ; Humans ; Male ; Middle Aged ; Muscle Hypotonia ; drug therapy ; etiology ; rehabilitation ; therapy ; Stroke ; complications

The relationship of affected regions, cause of disease, pathogenesis of flaccidity with physiological functions of the Governor Vessel is expounded, indicating that "skin, muscle, tendon, vessel and joint" are basic structures of performing motor function of the organism, which depend on nourishing of qi, blood, body fluid, essence and marrow; "insufficiency of essence and marrow" and "deficiency of qi and blood" are keys of pathogenensis of flaccidity; "deficiency or obstruction of the Governor Vessel" and "yang of the Governor Vessel unable to function" are the basis of channels and collaterals for flaccidity attack. Clinically, regulation of the Governor Vessel can promote repair of morphosis and functions of the Governor Vessel (brain and spinal cord), and rebuilding of the regulative system of the brain-the Governor Vessel (spinal cord)-viscera-channels, qi and blood functional activities, so as to restore the normal distribution and transduction of qi, blood, body liquid, essence and marrow to nourish skin, muscle, tendon, vessel and joint.
Acupuncture Therapy ; methods ; Blood Vessels ; physiology ; Brain ; blood supply ; Humans ; Medicine, Chinese Traditional ; Muscle Hypotonia ; etiology ; therapy ; Qi ; Spinal Cord ; blood supply

A boy was admitted at the age of 17 months. He had psychomotor retardation in early infancy. Physical examination revealed microcephalus, unusual facies, and a single palmar crease on his right hand, as well as muscle hypotonia in the extremities and hyperextension of the bilateral shoulder and hip joints. Genetic detection identified two pathogenic compound heterozygous mutations, c.8868-1G>A (splicing) and c.11624_11625del (p.V3875Afs*10), in the VPS13B gene, and thus the boy was diagnosed with Cohen syndrome. Cohen syndrome is a rare autosomal recessive disorder caused by the VPS13B gene mutations and has complex clinical manifestations. Its clinical features include microcephalus, unusual facies, neutropenia, and joint hyperextension. VPS13B gene detection helps to make a confirmed diagnosis.
Base Sequence ; Developmental Disabilities ; diagnosis ; genetics ; Fingers ; abnormalities ; Humans ; Infant ; Intellectual Disability ; diagnosis ; genetics ; Male ; Microcephaly ; diagnosis ; genetics ; Muscle Hypotonia ; diagnosis ; genetics ; Mutation ; Myopia ; diagnosis ; genetics ; Neutropenia ; complications ; genetics ; psychology ; Obesity ; diagnosis ; genetics ; Psychomotor Disorders ; diagnosis ; etiology ; genetics ; Retinal Degeneration ; diagnosis ; genetics ; Vesicular Transport Proteins ; genetics