Weakness of the Pelvic Floor Muscle and Bladder Neck Is Predicted by a Slight Rise in Abdominal Pressure During Bladder Filling: A Video Urodynamic Study in Children / 대한배뇨장애요실금학회지

PURPOSE: To investigate the significance of slowly rising abdominal pressure (SRAP), which is often observed in nonneurogenic children during bladder filling in video urodynamic studies (VUDSs). METHODS: The records of patients who underwent VUDS from July 2011 to June 2013 were reviewed. SRAP was defined as a rising curve over 5 cm H2O from the baseline abdominal pressure during the filling phase in VUDS. Bladder descent was defined when the base of the bladder was below the upper line of the pubic symphysis. An open bladder neck was defined as the opening of the bladder neck during the filling phase. RESULTS: Of the 488 patients, 285 were male patients. The mean age at VUDS was 3.7 years (range, 0.2-17.6 years). The VUDS findings were as follows: SRAP, 20.7% (101 of 488); descending bladder, 14.8% (72 of 488); and bladder neck opening, 4.3% (21 of 488). Of the 72 patients with a descending bladder, 84.7% had SRAP. A significant difference in the presence of SRAP was found between the descending bladder and the normal bladder (P<0.001). Of the 101 patients with SRAP, 40 (39.6%) did not have a descending bladder. Of the 40 patients, 14 (35.0%) had a bladder neck opening, which was a high incidence compared with the 4.3% in all subjects (P<0.001). CONCLUSIONS: SRAP was associated with a descending bladder or a bladder neck opening, suggesting that SRAP is a compensatory response to urinary incontinence. SRAP may also predict decreased function of the bladder neck or pelvic floor muscle.

Comparison of Clinical and Electrophysiological Characteristics between CMTX with Cx32 Missense Mutation and CMT1A with PMP22 Duplication

BACKGROUND: Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous disorder. Connexin32 (Cx32) gene mutations on Xq13.1 cause the X-linked form of CMT disease, and PMP22 gene duplication on 17p11.2-p12 causes CMT1A. The aim of the present study is to determine the clinical and electrophysiological characteristics between X-linked CMT patients with Cx32 missense mutations and CMT1A patients with PMP22 duplications. METHODS: We screened for 17p11.2-p12 duplication, and for point mutations in Cx32 genes of 48 Korean CMT families. Both neurological examination and nerve conduction studies were performed in all patients. RESULTS: Frequency of CMTX (6.3%) in our study was similar to Japanese, and was lower than those in European peoples. CMTX patients displayed no man-to-man transmission, and had cranial nerve involvement. CMTX patients showed more wide range of motor and sensory nerve conduction velocities than CMT1A patients. We found one family with axonal neuropathy and two families with demyelinating neuropathy in CMTX patients. CONCLUSIONS: Our findings suggest that mutations in Cx32 are probably less frequent in Asian CMT patients than European patients, and CMTX neuropathy is intermediary between CMT1 and CMT2. In addition, inheritance pattern and cranial nerve involvement are useful in differentiating CMTX from CMT1A with duplication.

A Novel V136A Mutation in Cx32 and a R359W Mutation in EGR2 within a Charcot-Marie-Tooth Patient

Mutations of the CMT genes develop a variety of distinct phenotypes. Cx32 gene mutations cause the X-linked form of CMT disease, and mutations in EGR2 are associated with CMT type 1, DSS, and congenital hypomyelination neuropathy. Her parents, grandmother and sister did not show the V136A mutation in Cx32. We report the first CMT patient with EGR2 and Cx32 mutations.