Patellar dislocation in achondroplasia

The knee was assessed by normal plain radiographs in 20 achondroplasia patients (40 lower extremities), whose age ranged from 10.5 to 23 years. Five patients (seven knees) had permanent patellar dislocation. There was a significant difference between the achondroplasia group and control group (50 knees without skeletal dysplasia) for femoral sulcus angle but not for femorotibial angle, Insall-Salvati index and Q angle. Patellar dislocation for achondroplasia may be caused not only by the abnormalities of soft tissue but also a small groove of patellofemoral joint as a bony malformation.     

The influence of supragastric belching severity on esophageal acid exposure and motility

Background

Supragastric belching (SGB) is a phenomenon where air is rapidly sucked from the pharynx into the esophagus and immediately expelled through abdominal straining. It is considered a behavior disorder and is increasingly recognized not only in patients with excessive belching, but also in those with reflux-like symptoms. Increased prevalence of esophageal hypomotility and increased acid exposure were previously reported in small cohorts of SGB patients. We aimed to clarify the impact of SGB on motility, reflux, and acid exposure in a large cohort of SGB patients.

Methods

In a single-center database study, we searched for patients with pathological SGB. MII-pH and Manometry tracings were manually re-evaluated in all patients. Demographic, clinical, motility, reflux, and SGB-related data were gathered.

Key Results

Three hundred and forty-eight patients were included. Heartburn, belching, and regurgitation were the most common symptoms. Ineffective esophageal motility (IEM) was found in 27% of patients. SGB related to 47% of all reflux and to 53.6% of acid reflux events, and accounted for 27.3% of acid exposure time (AET). In those with severe SGB, 62% of acid reflux events and 46% of AET were SGB-related.

Conclusions & Inferences

Supragastric belching is common, associated with higher incidence of IEM and is responsible for almost a third of esophageal acid burden. The impact of SGB is proportional to its severity. Diagnosis of SGB should be sought in patients with excessive belching and in patients with refractory reflux symptoms. Recognizing SGB and treating patients with behavioral therapy may alleviate acid exposure and improve quality of life.     

Demography of sleep disturbances associated with circadian rhythm disorders in Japan

To clarify the demography of delayed sleep phase syndrome (DSPS), non-24-h sleep-wake syndrome, and irregular sleep-wake pattern in Japan, a cross-sectional nationwide epidemiological survey was conducted. 1525 adults (age: 15-59 years) were randomly sampled from telephone directories, and they received screening questions over the phone. Persons who were suspected of having the disorders were requested to fill out the second questionnaire, and asked to keep a sleep log for 4 weeks. Diagnoses were made according to the International Classification of Sleep Disorders criteria. As a result, the prevalence of DSPS was estimated to be 0.13%.     

Development of multiple calculi in the duplex system ureterocele

A 61-year-old man presented complaining of pollakisuria and nocturia. A plain radiograph of his kidney, ureter and bladder and intravenous urography revealed numerous calculi in the upper kidney of his left renal pelvis and ureterocele. A transurethral incision of ureterocele (TUI-ureterocele) and extracorporeal shock wave lithotripsy were performed. On TUI-ureterocele, the many calculi were found to be almost the same size and spherical in form. The postoperative clinical course was uneventful.     

A prospective evaluation of the transthyretin Ile122 allele frequency in an African-American population.

Transthyretin Val122Ile is one of greater than 80 mutations in transthyretin (TTR) that are associated with hereditary amyloidosis. Retrospective studies have shown a prevalence of this mutation as high as 3.9% in African-Americans. The present study was undertaken to determine in a prospective fashion the prevalence of the TTR Val122Ile allele in African-Americans in a Midwestern American city. DNA was isolated from cord bloods collected at the time of birth in the County hospital of Indianapolis, Indiana. Samples were identified only as to ethnic origin of the mother. Analysis was performed by PCR amplification of TTR exon 4 followed by SSCP and RFLP. Cord bloods from 1,973 children born at the County hospital were analyzed. Thirty of 1,000 DNA samples from African-American newborns were positive for TTR Val122Ile (3%). Two of 453 DNA samples from Caucasian newborns were positive (0.44%). Zero of 490 DNA samples from newborns of Hispanic mothers and 0 of 30 from newborns with mothers classified as other (including Asian) were positive. This prospective study demonstrates that 3% of newborns of African-American women in an urban population have the TTR Val122Ile mutation which is associated with late-onset cardiomyopathy. The degree of penetrance of this mutation at the clinical level has not yet been determined.     

Compliance measurement of lower esophageal sphincter and esophageal body in achalasia and gastroesophageal reflux disease

Little is known about the effect of achalasia and gastroesophageal reflux disease (GERD) on compliance of the esophageal body and the lower esophageal sphincter (LES). Twenty-two patients with achalasia, 14 with GERD, and 14 asymptomatic volunteers were assessed. Recording apparatus consisted of a specially developed PVC bag tied to a compliance catheter, a barostat, and a polygraph. Intrabag pressures were increased incrementally while the bag volume was recorded. In each subject, pressure–volume graphs were constructed for both the esophageal body and LES and the compliance calculated. In achalasia, compliance of the esophageal body was significantly higher (P < 0.01) than in controls, whereas LES compliance was similar. Patients with GERD had a highly compliant LES in comparison to both controls and to patients with achalasia (P < 0.01 and P < 0.001, respectively); however there was no difference in their esophageal body compliance. In conclusion, foregut motility disorders can cause changes in organ compliance that are detectable using a barostat and a suitably designed compliance bag. Further measurement of compliance may provide clues to the pathogenesis of these disorders.