Why is hypercalciuria absent at diagnosis in some children with ATP6V1B1 mutation?

We try to explain why hypercalciuria is absent at diagnosis in some children with an ATP6V1B1 mutation. A 5-month-old girl presented with distal renal tubular acidosis (dRTA) and sensorineural hearing loss. Direct sequencing of the ATP6V1B1 genes disclosed a new homozygous mutation (452 delT) in exon 13. In particular, an absence of hypercalciuria and a normal level of parathyroid hormones were noted. After alkaline therapy, the signs of nephrocalcinosis improved on ultrasound during follow-up. After a review of the literature regarding patients with ATP6V1B1 gene mutations, a young age seemed to be an important factor for normocalciuria. The probable mechanism of normocalciuria and a dynamic mode of calcium excretion in patients with dRTA is proposed. The determinant factors include the degree of systemic acidosis, urine pH, genetic polymorphisms, age, dietary factors, and volume status. Low sodium intake may be a major determinant of normocalciuria in these patients. It is suggested that hypercalciuria is usually absent at diagnosis of dRTA in young infants. Blood pH, plasma bicarbonate concentration, urinary citrate levels, and growth catch-up may be better indicators of adequate alkali therapy in normocalciuric children. Volume contraction, low salt content in infant formula, and alkaline urine in young infants are likely to account for the increased calcium reabsorption.     

Minilaparoscopic herniorrhaphy in pediatric inguinal hernia: a durable alternative treatment tostandard herniotomy

Background

The purpose of the article is to report our long-term results of minilaparoscopic inguinal hernia repair in children.

Methods

Between September 2003 and September 2008, 161 children with inguinal hernia were treated with minilaparoscopic herniorrhaphy. The asymptomatic contralateral internal ring was routinely explored and repaired if a patent processus vaginalis of not less than 2 cm was noted. Patients who were followed for less than 1 year and those who were lost to follow-up were excluded from the study. Intraoperative and postoperative complications and hernia recurrences were documented.

Results

In total, 146 patients were eligible for final analysis. A total of 196 minilaparoscopic herniorrhaphies were performed. The mean follow-up period was 3 years. There were 4 hernia recurrences (2%) in 3 boys. There were no procedure-related complications. None of the patients with a negative contralateral exploration or a contralateral patent processus vaginalis of less than 2 cm had a contralateral metachronous inguinal hernia.

Conclusions

Our long-term results reveal that minilaparoscopic herniorrhaphy combined with hernia sac transection is a safe and effective alternative treatment to standard open herniotomy.     

A comparative study of standard versus laparoendoscopic single-site surgery (LESS) totally extraperitoneal (TEP) inguinal hernia repair

Background  

Laparoscopic inguinal hernia repair has been around since the 1990s. A novel surgical approach known as laparoendoscopic single-site surgery (LESS) has been developed to reduce the port-related morbidities and improve the cosmetic outcomes of laparoscopic surgery, including totally extraperitoneal (TEP) inguinal hernia repair. The aim of the present study was to evaluate the safety and feasibility of the LESS TEP technique for inguinal hernia repair and compare the outcomes with the standard TEP approach.     

Vertical expandable prosthetic titanium rib device insertion: does it improve pulmonary function?

Purpose

Vertical expandable prosthetic titanium rib (VEPTR) insertion and expansion has been advocated to increase thoracic volume and pulmonary function in patients with thoracic insufficiency syndrome. We reviewed our experience with VEPTR implantation to determine if lung function and growth is augmented, to determine the children's functional status, and if the scoliosis is controlled.

Methods

From 2006 to 2010, 29 insertions and 57 expansions were performed in 26 patients at our institution. Demographic data were reviewed in conjunction with complications, scoliosis angles, pulmonary function tests (PFTs), and computed tomography-guided 3D reconstructions to determine lung volumes; and quality of life scores were determined using a modified Scoliosis Research Society (SRS) questionnaire preoperatively and postoperatively. The groups were also stratified by age (because of lung growth potential), disease (congenital or infantile scoliosis, Jeune syndrome, neuromuscular, other structural thoracic disorders), and sex. Analyses using SPSS (SPSS, Chicago, Ill) were performed with P < .05 considered significant.

Results

Each patient underwent 3.03 ± 1.8 surgeries, spending 0.97 ± 1.8 days in the intensive care unit and 4.41 ± 6 days in the hospital for each procedure. Mean age was 90.7 ± 41 months. Of the 36 complications, most were because of infection (12), half requiring operative repair (hardware removal). The average PFT percent predicted values for forced expiratory volume in 1 second, forced vital capacity, and RV were 54.6 ± 22, 58.1 ± 24, and 145.3 ± 112, respectively, preoperatively and 51.8 ± 20, 55.9 ± 20, and 105.6 ± 31, respectively, postoperatively. The lung volumes measured by computed tomography when corrected for age do not increase significantly postoperatively. The mean Cobb measurement for the preoperative major curves was 64.7° and postoperatively was 46.1° for those curves measured preoperatively, for a 29% curve improvement. All postoperative curves had a mean of 56.4° and 58.1° at final follow-up, a 3% curve increase. The SRS scores for patients remained unchanged and no statistical difference was seen from preoperative to postoperative values. No statistically significant difference was seen in complications, PFT (forced expiratory volume in 1 second, forced vital capacity, RV), lung volumes, scoliosis angles, and SRS scores between sex, age, and disease categories.

Conclusion

There was mild improvement in scoliosis angles but no improvement in lung function and volume. Scoliosis Research Society scores indicate that the children have near normal function both before and after VEPTR placement. Pulmonary function, lung volume, and patient subjective assessments did not increase dramatically after VEPTR placement, although scoliosis angles improved.     

Comparison of functional outcomes of total elbow arthroplasty vs plate fixation for distal humerus fractures in osteoporotic elbows

Treating intra-articular fractures about the osteoporotic distal humerus poses a significant challenge. The purpose of this retrospective study was to evaluate functional outcomes for distal humeral fractures treated with total elbow arthroplasty (TEA) or open reduction and internal fixation (ORIF) in a nonarthritic elderly population with osteoporosis. We reviewed the records of all women older than age 60 who had undergone surgical treatment for intraarticular distal humerus fractures (Orthopaedic Trauma Association types 13B and 13C) by 1 of 2 surgeons. Demographic and operative data were obtained, charts were reviewed, and patients were asked to have their outcomes evaluated with the Disabilities of the Arm, Shoulder, and Hand (DASH) questionnaire and the Mayo Elbow Performance Index (MEPI). Twenty-two patients (23 elbows) were identified, and 2 of these (3 elbows) were excluded. Of the remaining 20 patients, 9 had undergone cemented, semiconstrained TEA as initial treatment, and 11 had undergone ORIF. These 2 groups were compared. Mean follow-up was 14.8 months (range, 6-38 months). There were no significant differences between the TEA and ORIF groups with respect to demographic factors. Final elbow range of motion was 92° flexion-extension arc (arthroplasty group) and 98° (fixation group). Two patients in the arthroplasty group and 2 in the fixation group died. For the remaining patients, mean DASH scores were 30.2 (arthroplasty) and 32.1 (fixation), and mean MEPI scores were 79 (arthroplasty) and 85 (fixation). These differences were not statistically significant. Four TEAs developed radiographic loosening by a mean of 15 months, and 1 of these underwent revision with good outcome. Ten of the 11 fractures in the fixation group healed radiographically; the 1 nonunion with collapse continued to be asymptomatic. Two patients in the fixation group underwent contracture release after union for limited elbow range of motion. Many factors come into play in the treatment of intra-articular distal humerus fractures in patients with osteoporosis. Implant selection must be based on bone quality, expected outcome, and surgeon experience. For these injuries, good outcomes may be obtained with either TEA or ORIF.     

Tear size and location impacts false lumen pressure in an ex vivo model of chronic type B aortic dissection

BACKGROUND: Follow-up mortality is high in patients with type B aortic dissection (TB-AD) approaching one in four patients at 3 years. A predictor of increased mortality is partial thrombosis of the false lumen which may occlude distal tears. The hemodynamic consequences of differing tear size, location, and patency within the false lumen is largely unknown. We examined the impact of intimal tear size, tear number, and location on false lumen pressure. METHODS: In an ex-vivo model of chronic type B aortic dissection connected to a pulsatile pump, simultaneous pressures were measured within the true and false lumen. Experiments were performed in different dissection models with tear sizes of 6.4 mm and 3.2 mm in the following configurations; model A: proximal and distal tear simulating the most common hemodynamic state in patients with TB-AD; model B: proximal tear only simulating patients with partial thrombosis and occlusion of distal tear; and model C: distal tear only simulating patients sealed proximally via a stent graft with persistent distal communication. To compare false lumen diastolic pressure between models, a false lumen pressure index (FPI%) was calculated for all simulations as FPI% = (false lumen diastolic pressure/true lumen diastolic pressure) x 100. RESULTS: In model A, the systolic pressure was slightly lower in the false lumen compared with the true lumen while the diastolic pressure (DP) was slightly higher in the false lumen (DP 66.45 +/- 0.16 mm Hg vs 66.20 +/- 0.12 mm Hg, P < .001, FPI% = 100.4%). In the absence of a distal tear (model B), diastolic pressure was elevated within the false lumen compared with the true lumen (58.95 +/- 0.10 vs 54.66 +/- 0.17, P < .001, FPI% = 107.9%). The absence of a proximal tear in the presence of a distal tear (model C) diastolic pressure was also elevated within the false lumen versus the true lumen (58.72 +/- 0.24 vs 56.15 +/- 0.16, P < .001, FPI% 104.6%). The difference in diastolic pressure was greatest with a smaller tear (3.2 mm) in model B. In model B, DBP increased by 13.9% (P < .001, R(2) 0.69) per 10 beat per minute increase in heart rate (P < .001) independent of systolic pressure. CONCLUSIONS: In this model of chronic type B aortic dissection, diastolic false lumen pressure was the highest in the setting of smaller proximal tear size and the lack of a distal tear. These determinants of inflow and outflow may impact false lumen expansion and rupture during the follow-up period.     

Instrumented posterior lumbar interbody fusion for patients with degenerative lumbar scoliosis

OBJECTIVE: Surgery for degenerative lumbar scoliosis remains challenging for spine surgeons even with the application of pedicle screw instrumentation. This retrospective study assesses the outcomes of instrumented posterior lumbar interbody fusion (PLIF) for degenerative lumbar scoliosis. METHODS: From April 2000 to April 2004, 26 patients with degenerative lumbar scoliosis were treated with instrumented PLIF. Mean age of the 15 females and 11 males was 64.2 years (range, 51 to 77 y). Clinical and radiographic outcomes were retrospectively reviewed for each case at a minimum follow-up of 2 years (median follow-up, 3 y; range, 2 to 6 y). At final follow-up, patients were classified as "satisfied" or "dissatisfied" according to self-reported outcomes. RESULTS: At most recent follow-up, the average Oswestry Disability Index score was significantly lower than the preoperative score (25.8 vs. 58.0; P<0.001). Twenty (76.9%) patients reported that they were satisfied with their surgical outcomes. The average lumbar scoliosis angles were significantly less than preoperative angles (7.4 vs. 16.5 degrees; P<0.001), resulting in a reduction in mean scoliosis angles of 55.2%. The average angles of lumbar lordosis were significantly higher than preoperative angles (30.1 vs. 22.2 degrees; P=0.001), an increase in mean lumbar lordosis angles of 35.6%. No perioperative deaths or major medical complications occurred. Five patients had adjacent segment degeneration and 4 (80%) of 5 reported dissatisfactory outcomes. Further study is required to identify the etiologies of adjacent segment degeneration and methods for avoiding such degeneration. CONCLUSIONS: Analytical results demonstrate that instrumented PLIF after laminectomy in patients with degenerative lumbar scoliosis is an effective and safe procedure.     

The association of androgen- and oestrogen-receptor gene polymorphisms with urolithiasis in men

OBJECTIVE: To evaluate the association of urolithiasis with polymorphic microsatellite (encoding cytosine, adenine, and guanine, CAG) repeats in the exon 1 region of the androgen receptor (AR) gene and thymine/adenine (TA) repeats in the oestrogen receptor (ER). PATIENTS AND METHODS: Patients with urolithiasis (149) and a group of normal controls (102) were examined and compared. The CAG repeats of the AR gene and TA repeats of the ER gene were detected by polymerase chain reaction. The CAG repeats ranged from 171 bp (10 CAG repeats with 141 bp of amplified flanking sequences) to 270 bp (43 CAG repeats). The TA repeats ranged from 160 bp to 194 bp. Associations between calcium oxalate stone disease and the CAG repeats in AR gene and TA repeats in ER gene were then evaluated. The results were classified according to sex and peaks in allelic frequency distribution. RESULTS: There was a significant difference between the male stone patients and the normal controls in the distribution of CAG repeats in the AR gene. Both groups showed a high percentage of 21-repeats in the allelic distribution, at 17 (16%) and 20 (37%) in stone patients and normal controls, respectively. The results indicate that 21-CAG repeats might be related to a lower risk of stone formation in men (P < 0.05). In the ER gene, the peak allelic distribution of TA repeats was 14, showing a significant difference between male stone patients and the normal control subjects (P < 0.01). There were no statistical differences between female stone patients and the control subjects in either the AR or the ER gene. CONCLUSION: Urolithiasis among men appears to be associated with AR gene CAG repeat and ER gene TA repeat polymorphisms, whereas there was no significant association among female stone patients. These sex hormone receptors seem to be related to the higher incidence of stone formation among men.     

Axillary brachial plexus block with patient controlled analgesia for complex regional pain syndrome type I: a case report

BACKGROUND AND OBJECTIVES: Brachial plexus block (BPB) has been cited as a treatment modality for complex regional pain syndrome type I (CRPS I) of the upper limb. However, there are no reports using axillary BPB with patient controlled analgesia (PCA) for the treatment of CRPS I. This report is based on the retrospective observations of the outcome and effects of axillary BPB with PCA in a patient with CRPS I. CASE REPORT: A 32-year-old man suffered from CRPS I of the right upper limb after surgical release of carpal tunnel syndrome of the right hand. Symptoms and signs over the right hand were alleviated under rehabilitation and conventional pharmacological management, but severe painful swelling of the right wrist persisted. Axillary BPB with PCA was performed on the 32nd postoperative day, which soon resulted in significant reduction of pain with gradual improvement of function of the right wrist. CONCLUSIONS: Axillary BPB with PCA may provide patients with CRPS I of the upper limb a feasible and effective treatment. .     

Significance of CD44 Expression in Gastrointestinal Stromal Tumors in Relation to Disease Progression and Survival

Background CD44 is a transmembrane glycoprotein belonging to the cell-adhesion molecule family. It has been identified as being involved in tumor progression and metastasis, and its expression has been found to be of prognostic significance in several human malignancies. The aim of this study was to assess CD44 expression in gastrointestinal stromal tumors (GISTs), the most common mesenchymal tumor of the gastrointestinal tract. Methods Between January 1995 and March 2006, 92 patients undergoing surgical resection for GIST in National Cheng Kung University Hospital were evaluated. To study the significance of CD44 expression, immunohistochemical staining of CD44 in tumor specimens was performed, and the clinicopathological information of patients was reviewed. Results Fifty-nine of 81 patients (73%) showed positive CD44 expression. Loss of CD44 expression was associated with disease progression (p = 0.019). Kaplan-Meier analysis revealed better progression-free survival among patients with strong CD44 expression (++ and +++) (p = 0.034), absence of disease progression (p < 0.001), and lower risk, according to National Institutes of Health (NIH) Consensus Criteria for GIST risk stratification (p = 0.003). Multivariate analysis demonstrated that high-risk status was the only independent risk factor for disease progression and the only independent predictor for a poor progression-free survival (p = 0.023 and 0.045, respectively). Conclusions It is demonstrated that high-risk status by NIH criteria is significantly associated with disease progression and poor progression-free survival in GIST.