Sensorimotor polyneuropathy in patients with SMA type‐1: Electroneuromyographic findings

Introduction: Generally, spinal muscular atrophy (SMA) is believed to be a pure motor neuron disease. We retrospectively evaluated our electrodiagnostic findings in SMA type 1 patients to demonstrate co‐existence of sensorimotor neuropathies. Methods: Electroneuromyographic (ENMG) studies in 15 patients (11 boys, 4 girls) were reviewed independently by 2 neurophysiologists. Upper extremity findings were compared with normal right arm controls. Results: Patient ages ranged from 1.5 to 26 months. Four SMA patients (26.7%) had decreased sensory nerve action potentials (SNAPs) or sensory nerve conduction velocities. Of them, median SNAPs could not be elicited in 3, and sural SNAPs could not be elicited in 2. Compound muscle action potential amplitudes were severely decreased in 14 (93.3%) and normal in 1. Conclusions: Survival motor neuron 1 (SMN1) gene analysis should be considered if clinical features are consistent with SMA, even if pathological or electrophysiological findings demonstrate peripheral sensorimotor polyneuropathies. Muscle Nerve, 2013     

Accuracy of cystoscopy in the diagnosis of ureteral injury in benign gynecologic surgery

Our objective was to review our experience and attempt to identify risk factors for ureteral injury during gynecologic surgery for benign conditions. A retrospective chart review was performed of all cases of ureteral injury during gynecologic surgery for benign conditions, at Temple University Hospital, from January 1992 to September 2002. We analyzed hospital records to determine whether the injury was diagnosed intraoperatively, with postprocedure cystoscopy, or if cystoscopy was ineffective in diagnosing the injury. There were nine ureteral injuries during the study period. Of these, two were diagnosed during the procedure, two were discovered by immediate postprocedure cystoscopy, and the other five were discovered during the postoperative period. Of these five, three patients had immediate postprocedure cystoscopy and the injuries were not detected. Risk factors associated with ureteral injury included: a large uterus (5), high-grade cystocele (3), ectopic insertion of the ureter into the bladder (1), and previous surgeries (4). Our conclusion was that negative cystoscopy cannot be solely relied on to rule out ureteral injury, as cases with partial obstruction and ureteral patency can be missed.Abbreviations CVA Costovertebral angle - IVP Intravenous pyelography - UVJ Ureterovesical junction Editorial Comment: Ureteral injury during routine benign gynecologic surgery is rare. However, a significant amount of morbidity is associated with delayed diagnosis and with the subsequent therapeutic interventions that occur. It seems intuitive that altered anatomy, whether from previous surgery or from a large myomatous uterus, increases the risk of ureteral injury. Careful and thorough intraoperative ureteral identification combined with routine cystoscopy reduces the incidence of delayed diagnosis of complete ureteral obstruction. For partial ureteral obstruction, though, the role of cystoscopy is less clear. Because ureteral efflux can still occur in partial obstruction, there may be a lot more unrecognized ureteral injuries or kinking. In spite of these limitations, cystoscopy has little morbidity associated with it, and reduces the delay in diagnosis of other injuries to the lower urinary tract. A high clinical index of suspicion in the immediate postoperative period may be the only way to reduce the subsequent morbidity associated with the delayed diagnosis of partial ureteral obstruction.     

La fissure orbitaire supérieure et son contenu

Surgical and Radiologic Anatomy -     

Predicting fetal asphyxia in intrahepatic cholestasis of pregnancy

Purpose  

Intrahepatic cholestasis of pregnancy (ICP) is a disease associated with high-perinatal morbidity and mortality rates. It is important to have parameters that aid in predicting fetal outcomes. Certain parameters affecting asphyxia in newborns to mothers with ICP are evaluated in this study.     

Aneurysmal bone cyst of the third metatarsal treated by using free non-vascular transfer of the fibula segment

Here, we present a case of aneurysmal bone cyst of the third metatarsal that has been infrequently reported in the literature. Its characteristics can mimic various other bone tumors. While the radiographic appearance usually typifies this lesion, microscopic evaluation is paramount for a definitive diagnosis. There are various treatment alternatives for this lesion depending on size, patient’s age and localization. In this report, we recommend total excision of the lesion and reconstruction of the defect by transfer of fibular segment. We obtained satisfactory clinical and radiological results, after 3 years of postoperative evaluation.     

Reducing cardiac injury during minimally invasive repair of pectus excavatum

Minimally invasive repair of pectus excavatum (MIRPE) provides a minimal access approach to correct pectus excavatum deformities. Cardiovascular complications represent a rare but catastrophic complication of this cosmetic operation. We describe a modification to the technique following a case of cardiac puncture.     

Type I cystinuria and its genetic basis in a population of Turkish school children

OBJECTIVES: Cystinuria is a common inherited disorder characterized by an abnormal urinary excretion of cystine and dibasic amino acids resulting in nephrolithiasis. The SLC3A1 gene, which encodes a dibasic amino acid transporter protein, is involved in the pathogenesis of cystinuria. In the present study we aimed to investigate the prevalence of cystinuria among children in Sivas province (Central Anatolia, Turkey) and to study M467T and M467K mutations and 231T/A polymorphism in patients with cystinuria. METHODS: A total of 8500 children were screened for cystinuria. The cyanide-nitroprusside test was applied to urine samples of all children. Children having a positive cyanide-nitroprusside test were further analyzed. M467T and M467K mutations (exon 8) and 231T/A polymorphism (exon 1) in the SCL3A1 gene were studied using a restriction fragment length polymorphism (RFLP) assay. RESULTS: We have found that the prevalence of cystinuria (11 cystinuric patients) is 1/772 in our population. Results of mutation analysis in the patients with cystinuria showed that M467T was the only mutation that was found in six cystinuric patients. One patient was homozygous and five were heterozygous for this mutation. CONCLUSIONS: The frequency of cystinuria in Sivas Province is the highest among the other populations studied to date. The frequency of M467T mutation is relatively higher than those reported for most populations. High frequency of cystinuria in this region could be due to consanguineous marriages.     

Common complications of segmental bone transport with Ilizarov technique in defective tibia pseudoarthrosis: a review

In tibial pseudoarthrosis, segmental bone transport with Ilizarov external fixator is being widely applicated all around the world, with encouraging successful outcomes. As the treatment with this technique requires a long period of time, the surgeon may face many problems which may negatively affect the final outcome. Pin tract infection, early or delayed consolidation, axial deviation and translation at the target area, skin inversion, rupture of the bone by the wires and joint contractures or stiffness form the main and common clinical problems. The rate of failure and complications with Ilizarov method used for diaphysial bone defects are so rare when precise technical details are carried out. With other treatment modalities, it is usually too difficult to obtain union synchronously with infection eradication. Thus, the Ilizarov technique presents successful outcomes against some complications mentioned above. Segmental bone transport is a surgical technique in which some of the problems can never be prevented. However, close patient follow up and always keeping the problems in mind make early diagnosis possible. With the early recognition of problems, successful treatment and increased overall outcome can be expected.