Complications and outcomes of posterior fusion in children with atlantoaxial instability

Introduction

Atlantoaxial instability (AAI) is an uncommon disease in children. Surgical treatment of pediatric patients with AAI poses a challenge to spine surgeons because of the patients’ immature bone quality, extensive anatomical variability, and smaller osseous structures. In this study, the authors report complications and outcomes after posterior fusion in children with AAI.

Methods

The authors reviewed medical records of patients 13 years old and younger with AAI who underwent posterior fusion in the Nagoya Spine Group hospitals, a multicenter cooperative study group, from January 1995 to December 2007. We identified 11 patients who underwent posterior fusion, and analyzed their clinical outcomes and complications. To determine if vertical growth within the construct continued after posterior fusion, in three patients at 5 or more years following occipito-cervical (O-C) fusion, intervertebral disc heights and vertebral heights between the fused and non-fused levels were compared on the final follow-up.

Results

The initial surgeries were C1–C2 fusions in six patients and O-C fusion in five patients. Successful fusion ultimately occurred in all patients, however, the complication rate related to the operations was high (64%). Complications included neurologic deterioration, pedicle fracture with pedicle screw insertion, C1 posterior arch fracture with lateral mass screw insertion, perforation of the skull with a head pin placement, and fusion extension to adjacent vertebrae. Two patients required reoperation. The mean fixed and non-fixed intervertebral disc heights on the final follow-up were 2.6 and 5.3 mm, respectively, showing that the disc height of the fixed level was less than the non-fused level. Each vertebra lengthened similarly between fused and non-fused levels except for C2 which had a lower growth rate than the other vertebrae.

Conclusions

A high complication rate should be anticipated after posterior fusion in children with AAI. Careful consideration should be paid to pediatric patients with AAI treated by screw and/or rod systems. After posterior fusion in pediatric patients, each vertebra continued to grow, in contrast the disc height decreased between fused levels.     

Reduced Coronary Flow Reserve and Early Diastolic Filling Abnormalities in Patients with Nephrotic Syndrome

Background. Increased cardiovascular disease risk is very well known in nephrotic syndrome. Coronary flow reserve measurement by trans-thoracic echocardiography reflects coronary microvascular and endothelial function. However, diastolic filling abnormalities by echocardiography may indicate diastolic dysfunction. Our aim was to evaluate endothelial and diastolic functions by trans-thoracic echocardiography in nephrotic syndrome. Methods. Eighteen patients with nephrotic syndrome (five females, 34 ± 17 years) and 30 controls (10 females, 35 ± 10 years) were evaluated in this cross-sectional observational study. Age, weight, lipid profile, glucose, blood urea nitrogen, creatinine, serum albumin, total protein, C-reactive protein, erythrocyte sedimentation rate, blood pressures, 24-hour urine volume, and protein were recorded. Glomerular filtration rate was estimated by Cockcroft-Gault Formula. Doppler flow and other echocardiographic parameters were measured by Vivid 7 echocardiography. Results. Coronary flow reserve was significantly lower in patients than controls (p < 0.001) and was negatively correlated with proteinuria (p < 0. 001), creatinine levels (p?=?0.03), total cholesterol (p?=?0.02), C-reactive protein (p?=?0.02), and erythrocyte sedimentation rate (p?=?0.005). E/A ratio was significantly lower in patients than in controls (p?=?0.005). DT was significantly higher in patients than in controls (p?=?0.01) and isovolumic relaxation time was similar in both groups. Conclusion. Coronary flow reserve and left ventricular diastolic filling are significantly impaired in nephrotic syndrome. Proteinuria, serum creatinine, total cholesterol and inflammation may have all contributory effects on endothelial dysfunction. Early evaluation of patients with nephrotic syndrome should include coronary flow and diastolic function by echocardiography.     

Total hip arthroplasty in patients with Trisomy 21: Systematic review and exploratory patient level analysis

Introduction

Trisomy 21 is the most common chromosomal disorders in humans; it is caused by an extra copy of chromosome number 21. This extra chromosomal material causes widespread abnormalities involving nearly every part of human body. Hip disorders are the second most serious musculoskeletal disorder in patients with T21 with a reported incidence between 2 and 28%. The outcomes of these hip disorders in patients with T21 are much less favorable than similar hip diagnoses in normal patients and a substantive number of these patients develop severe osteoarthritis that require total hip arthroplasty (THA). The outcome of THA in this cohort of patient is not well studied.

Effect of the Sharrard procedure on hip instability in children with Down syndrome: a retrospective study

PurposeThe aim of this study was to retrospectively analyze the effect of the Sharrard procedure on hip instability in children with Down syndrome (DS), as measured by the migration index.MethodsIn total, 17 children (21 hips) were included from six hospitals in the Netherlands between 2003 and 2019. The primary outcome, hip instability, was assessed with the Reimers’ migration index on preoperative and postoperative plain anteroposterior pelvic radiographs. The mean age at surgery was 8.1 years, the majority of children were male (64.7%) and the mean follow-up time was 7.3 years.ResultsThe mean preoperative migration index was 46% (sd 23.5) and the mean postoperative migration index was 37% (sd 28.4). The mean Delta migration index (the difference in pre-operative migration index and most recent post-operative migration index) showed an improvement of 9.3% (sd 22.7). An improvement in migration index was observed in 52%, no change in 29% and deterioration in 19% of hips. No (re)dislocations occurred in 91% of the hips. No major complications were observed during the follow-up period.ConclusionEarly intervention is warranted in children with DS showing hip instability or hip migration, in order to succeed with less complex procedures. The Sharrard procedure should be considered in children with DS showing hip instability or hip migration, since it aims to rebalance the muscles of the hip joint, is less complex than bony procedures of the femur and acetabulum, surgery time is often shorter, there are fewer major complications and the rehabilitation period is shorter.Level of EvidenceIV - retrospective case series     

Detection of chromosomal abnormality and Y chromosome microdeletion in patients with azoospermia and oligozoospermia

Objective:To investigate the chromosomal abnormality and Y chromosome microdeletion in patients with azoospermia and oligozoospermia.Methods:Cytogenetic karyotype analysis and multiplex PCR were used to detect chromosomal abnormality and Y chromosome microdeletion in 99 azoospermic and 57 oligospermic patients(total 156).45 fertile men were includ-ed as controls.Results:31 patients were found with chromosomal abnormalities in 156 cases(31/156,19.9 %),20 cases showed 47,XXY,2 cases showed 46,XY/47,XXY,7 cases had Y chromosome structural abnormalities and 2 had autosomal chromosome abnormalities.There were significant differences between the frequency of AZF microde-letion in 125 cases with normal karyotype and 45 controls(P<0.01).The frequency of AZF microdeletion in 68 azoospermic and 57 oligospermic patients were 14.7%(10/68)and 15.8%(9/57)respectively,the difference was not significant(P>0.05).AZFa,AZFb,AZFa+b,AZFb+c,AZFa+b+d and AZFb+c+d mierodeletions were found in azoospermic patients.AZFb,AZFc,AZFd,AZFb+c+d and AZFc+d microdeletions were found in oligo-spermic patients.Conxlusion:The frequency of chromosomal abnormality was 19.9% and the frequency of Y chromosome mi-crodeletion was 15.2% in patient with azoospermia and oligozoospermia.We should pay close attention to this prob-lem.     

原发性肾病综合征患者尿水通道蛋白异常及其意义

目的：探讨原发性肾病综合征患者尿液水通道蛋白含量变化与其在肾组织中表达量的相关性.方法：54例经肾活检病理证实为原发性肾小球疾病的患者分为3组,即非NS组（A组）、NS不伴水肿组（B组）、NS伴水肿组（C组）,应用ELISA法检测患者尿液AQP1及AQP2含量,免疫组化法检测3组患者肾组织AQP1及AQP2的表达.结果：（1）C组尿液AQP1含量为（43.078±17.923）μg,较A组的（39.189±12.448）μg及B组的（41.492±14.766）μg有升高,但差异无统计学意义;C组（45.309±16.921）μg、B组（38.621±13.187）μg尿AQP2含量显著高于A组的（30.320±9.528）μg;（2）AQP1主要表达于近端小管,C组AQP1阳性面积百分比为（0.414±0.201）%,显著低于A组的（0.683±0.311）%及B组的（0.652±0.300）%,A、B组间表达差异无统计学意义;AQP2主要表达于集合管,C组AQP2阳性面积百分比为（0.823±0.002）%,显著高于A组的（0.512±0.213）%及B组的（0.665±0.228）%,A、B两组间表达也差异有统计学意义;（3）尿AQP1含量与AQP1阳性面积百分比无显著相关性;B、C两组尿AQP2含量与AQP2阳性面积百分比呈显著正相关.结论：尿AQP2含量能反映其在肾组织中表达的多寡,但尿AQP1含量与其在肾组织的表达无明显相关.     

枢椎椎板螺钉联合寰椎椎弓根螺钉固定治疗寰枢椎脱位

目的 评价枢椎椎板螺钉联合寰椎椎弓根螺钉固定融合治疗寰枢椎脱位的临床可行性.方法 对5例枢椎椎弓根细小的寰枢椎脱位患者,在气管插管全身麻醉下施行了枢椎椎板螺钉联合寰椎椎弓根螺钉固定术.枢椎椎板螺钉的进钉点位于棘突两侧椎板交界处,交叉置人对侧椎板内;寰椎椎弓根螺钉的进钉点位于枢椎侧块中线上,距寰椎后弓上缘最少3 mm,内斜10°,上斜5°.螺钉直径3.5 mm,枢椎椎板螺钉长26～32 mm,寰椎椎弓根螺钉长28～32 mm,结合自体髂骨植骨.结果 患者获得随访3～18个月,平均7.5个月.未发生椎动脉、脊髓损伤,术后临床症状得到不同程度的改善,X线、CT复查螺钉位置良好,无松动、断钉,植骨3个月后均达到满意融合.结论 枢椎椎板螺钉联合寰椎椎弓根螺钉固定治疗寰枢椎脱位效果满意,是又一可供选择的寰枢椎后路固定术式.     

Clinical and social characteristics of Korean men with Klinefelter syndrome

Objectives: To investigate the characteristics of Klinefelter syndrome in a consecutive series of men consulting for sexual as well as fertility problems in Korea. Methods: A total of 179 men with non‐mosaic 47,XXY Klinefelter syndrome of the 1876 azoospermic males who visited the fertility center of our university hospital between January 2002 and January 2010 were included in this analysis. Their semen characteristics, hormone profiles, size of the prostate gland, and education level were assessed and compared with an age‐matched control group of 218 fertile males. Additionally, a histological evaluation was carried out. Results: Prostate size, testicular volume, semen volume and symptom severity showed statistically significant differences in both groups (P < 0.0001). As the severity of signs and symptoms worsened, the education level decreased. Each degree of signs and symptoms was associated with a different level of education, as well as with significant differences in the level of testosterone and testicular volume (P < 0.05). Spearman's correlation coefficient showed the severity of signs and symptoms was associated with testosterone (P < 0.0001). Conclusions: Testosterone has the strongest negative association with the severity of signs and symptoms in patients with Klinefelter syndrome. It influences the reproductive capacity, as well as the manifested signs and symptoms of hypogonadism. Furthermore, it is also associated with various aspects of life in these patients.     

Genetic Studies in Azoospermic Patients with the Klinefelter Pattern of Testicular Biopsy

Genetische Studien bei Azoospermie-Patienten mit Klinefelter-Syndrom-Symptomatik
Bei 82 Männern mit Azoospermie und Klinefelter-Symptomatik in der Hodenbiopsie wurden genetische, histopathologische, anthropometrische und klinische Untersuchungen durchgeführt. Die Ergebnisse deuten daraufhin, daß die Geschlechtschromatinwerte nicht als Ersatz für die Chromosomenanalyse gelten können, wenn ein Mosaik ausgeschlossen werden soll. Die Untersuchung zeigt weiterhin eine deutliche phaenotypische Überlappung zwischen chromatinpositiven und chromatinnegativen Befunden mit Klinefelter-Symptomatik. Diese Überlappung kommt vor bei dem klinischen Erscheinungsbild, welches durch die Anthropometrie dokumentiert wird und durch die histopathologischen Befunde der Hodenbiopsie, vor allem aber betrifft es die Bedeutung der genetischen Befunde. Fälle ohne Chromosomenaberration, bei denen die Autoren einen Umweltfaktor für aetiologisch bedeutsam halten, werden als Phaenokopien der genetischen Störung beschrieben.     

Laboratory Assays in Evaluation of Lynch Syndrome in Patients with Endometrial Carcinoma

This article reviews the main tissue testing modalities for Lynch Syndrome in the pathology laboratory, such as immunohistochemistry and PCR based analyses, and discusses their routine application, interpretation pitfalls, and troubleshooting of common technical performance issues. Discrepancies between laboratory and genetic testing may arise, and are examined in the context of the complexity of molecular abnormalities associated with Lynch Syndrome. The merits of targeted versus universal screening in a changing healthcare climate are addressed. In the absence of comprehensive screening programs, specific tumor topography and histological features that may prompt pathologist-initiated molecular tumor testing are outlined.