PURPOSE: Nemaline myopathy (NM) is a clinical heterogeneous congenital myopathy characterized by the presence of subsarcolemmal or cytoplasmic rod-like structures that call nemaline bodies in the muscle fibers. The purpose of this study was to investigate the clinical diversity and pathological features of Korean patients with NM. MATERIALS AND METHODS: Eight patients underwent analyses of clinical manifestations by a structured protocol. Diagnoses were established by a muscle biopsy. RESULTS: Two patients had the typical congenital type, which exhibited neonatal hypotonia and delayed motor milestone, and five patients had the childhood onset type, which exhibited mild gait disturbance as a first symptom. One patient had the adult onset type, which showed acute respiratory failure. Limb weakness was proximal-dominant occurred in six patients. Hyporeflexia was observed in most patients. Elongated faces and high arched palates and feet were also observed. On light microscopy, the nemaline bodies were observed in type 1 and 2 fibers. All patients showed type 1 predominance and atrophy. In the two cases in which ultrastructural studies were performed, typical nemaline rods and disorganized myofibrillar apparatus were detected. CONCLUSION: In conclusion, the eight Korean patients in this study with NM shared common clinical expressions such as proximal limb weakness, reduced deep tendon reflex, and dysmorphic features. This study, however, showed that clinical heterogeneity ranged from typical congenital, mildly affected childhood to the adult onset form with acute respiratory failure. The pathological findings in this study were in accordance with those of other previous reports.
Adolescent ; Adult ; Asian Continental Ancestry Group ; Female ; Humans ; Male ; Microscopy ; Myopathies, Nemaline/*pathology/physiopathology ; Reflex, Abnormal/physiology ; Young Adult

Brain Stem ; physiology ; Humans ; Infant, Newborn ; Infant, Newborn, Diseases ; etiology ; Movement Disorders ; etiology ; Myoclonus ; etiology ; Reflex, Abnormal ; Reflex, Startle ; Tremor ; etiology

OBJECTIVETo evaluate urodynamically and clinically bladder augmentation using double-deepithelialized segment of the small intestine lined with urothelium to analyse the recent outcome to treatment of hyperreflexia neurogenical bladder.

METHODS25 patients with neurogenical bladder underwent bladder augmentation using deepithelialized segment of the small intestine lined with urothelium (4 - 14 years old, 16 males and 9 females) from October 1998 to October 2000. 21 patients were followed up. Voiding cystoureterography and urodynamic and clinical evaluation were performed, and serum electrolyte, urea nitrogen and creatinine were tested before and 6 months to 2 years after operation.

RESULTSAfter operation, bladder volume, maximum urine flow rate and compliance were increased, but residual urine/bladder volume and detrusor pressure decreased. Uninhibitory contraction decreased in 15 patients. In 12 patients associated vesicoureteral reflux, clinical evaluation revealed poor outcomes before operation, but excellent (4 patients), good (9), effective (4), poor outcomes (4) after operation. Seven patients had urinary sensation recovered. Vesicoureteral reflux decreased in 9 patients. There were no electrolyte unbalance and abnormal renal function in all patients.

CONCLUSIONSBladder augmentation using double-deepithelialized segment of the small intestine lined with urothelium shows a better result currently.

Adolescent ; Child ; Child, Preschool ; Female ; Humans ; Male ; Reflex, Abnormal ; physiology ; Urinary Bladder, Neurogenic ; physiopathology ; surgery ; Urodynamics ; physiology ; Urologic Surgical Procedures ; Urothelium ; physiology