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- Assessment of Bony Pelvis and Vaginally Assisted Deliveries. [JOURNAL ARTICLE]
- ISRN Obstet Gynecol 2013.:763782.
Objective.To evaluate whether pelvic measurements have any association with operative vaginal deliveries and the duration of the second stage of the delivery. Study design. A retrospective study of pregnant women at an increased risk of fetal-pelvic disproportion during 2000-2008 in North-Carelian Central Hospital. The mode of the vaginal delivery was chosen to represent the reference standard. The target condition was spontaneous vaginal delivery. Patients were divided into subgroups according to the size of the fetus and also by the parity to evaluate the variability reflecting differences in patient groups. Receiver operating characteristic (ROC) curves were established.
Results.A total of 226 participants with fetal cephalic presentation delivered vaginally; of these, 184 women delivered spontaneously, and 42 women required operative vaginal delivery with vacuum extraction. There were no clinically or statistically significant differences between the size of the maternal pelvic outlet and the different modes of delivery types within these subgroups. With respect to the pelvic inlet and outlet, the areas under the curve in ROC were 0.566 with the P value of 0.18 and 95% confidence interval (CI) of 0.465-0.667 and 0.573 (95% CI: 0.484-0.622; P = 0.14).
Conclusions.The maternal bony pelvic dimensions exhibited virtually no correlation with the need for operative vaginal deliveries.
- Diagnosis of laryngotracheal stenosis from routine pulmonary physiology using the "Expiratory Disproportion Index" [JOURNAL ARTICLE]
- Laryngoscope 2013 May 20.
Objective/Hypothesis: Laryngotracheal stenosis (LTS) is an uncommon complication of mechanical ventilation or vasculitis, or a manifestation of airway compression or malignancy. It frequently masquerades as 'asthma' and evades timely diagnosis, causing prolonged morbidity and airway-related mortality.
Study design:Prospective observational study.
Objective:To determine the utility of Expiratory Disproportion Index (EDI), the ratio of forced expiratory volume in 1 second to peak expiratory flow rate (EDI=FEV1[L] /PEFR[L/s] ×100) in differentiating between LTS and other respiratory diagnoses.
Methods:We compared spirometry results of 9,357 healthy subjects and non-stenosis pulmonary patients with 217 cases of LTS. Bootstrap analysis, Receiver-Operating Characteristics (ROC) statistics and Pearson's correlation were used to assess EDI's diagnostic utility and its correlation with stenosis severity.
Results:Mean EDI values were 36±7 in non-stenosis cases, 76±17 in benign stenoses, and 69±23 in tracheal cancer (p<0.0001). A significant correlation existed between anatomical stenosis severity and EDI (p<0.0001; R=0.61). Area under the ROC curve was 0.98 and at a threshold of >50, EDI had a sensitivity of 95.8% and specificity of 94.2% in differentiating between stenosis and non-stenosis cases.
Conclusions:EDI can reliably diagnose LTS using routine lung function data. Its simplicity and utility are underpinned by a unique physiology whereby PEFR, being determined by total tracheobronchial tree resistance, falls disproportionately compared with FEV1, which is determined within small intrathoracic airways. EDI provides valuable information about the presence and extent of LTS particularly in non-specialist clinical settings, and could prevent the prolonged morbidity and mortality that currently results from missed and delayed diagnoses. Level of evidence: 3b.
- Phenotypic characterization of patients with deletions in the 3'-flanking SHOX region. [Journal Article]
- Peerj 2013.:e35.
Context. Leri-Weill dyschondrosteosis is a clinically variable skeletal dysplasia, caused by SHOX deletion or mutations, or a deletion of enhancer sequences in the 3'-flanking region. Recently, a 47.5 kb recurrent PAR1 deletion downstream of SHOX was reported, but its frequency and clinical importance are still unknown.
Objective.This study aims to compare the clinical features of different sizes of deletions in the 3'-flanking SHOX region in order to determine the relevance of the regulatory sequences in this region. Design. We collected DNA from 28 families with deletions in the 3'-PAR1 region. Clinical data were available from 23 index patients and 21 relatives.
Results.In 9 families (20 individuals) a large deletion ( ∼ 200-900 kb) was found and in 19 families (35 individuals) a small deletion was demonstrated, equal to the recently described 47.5 kb PAR1 deletion. Median height SDS, sitting height/height ratio SDS and the presence of Madelung deformity in patients with the 47.5 kb deletion were not significantly different from patients with larger deletions. The index patients had a median height SDS which was slightly lower than in their affected family members (p = 0.08). No significant differences were observed between male and female patients.
Conclusions.The phenotype of patients with deletions in the 3'-PAR1 region is remarkably variable. Height, sitting height/height ratio and the presence of Madelung deformity were not significantly different between patients with the 47.5 kb recurrent PAR1 deletion and those with larger deletions, suggesting that this enhancer plays an important role in SHOX expression.
- Evaluation of Right and Left Ventricular Diastolic Filling. [JOURNAL ARTICLE]
- J Cardiovasc Transl Res 2013 Apr 13.
A conceptual fluid-dynamics framework for diastolic filling is developed. The convective deceleration load (CDL) is identified as an important determinant of ventricular inflow during the E wave (A wave) upstroke. Convective deceleration occurs as blood moves from the inflow anulus through larger-area cross-sections toward the expanding walls. Chamber dilatation underlies previously unrecognized alterations in intraventricular flow dynamics. The larger the chamber, the larger becomes the endocardial surface and the CDL. CDL magnitude affects strongly the attainable E wave (A wave) peak. This underlies the concept of diastolic ventriculoannular disproportion. Large vortices, whose strength decreases with chamber dilatation, ensue after the E wave peak and impound inflow kinetic energy, averting an inflow-impeding, convective Bernoulli pressure rise. This reduces the CDL by a variable extent depending on vortical intensity. Accordingly, the filling vortex facilitates filling to varying degrees, depending on chamber volume. The new framework provides stimulus for functional genomics research, aimed at new insights into ventricular remodeling.
- Intracerebral hemorrhage following evacuation of a chronic subdural hematoma. [Journal Article]
- J Korean Neurosurg Soc 2013 Feb; 53(2):108-11.
Burr hole drainage has been widely used to treat chronic subdural hematomas (SDH), and most of them are easily treated by simple trephination and drainage. However, various complications, such as, hematoma recurrence, infection, seizure, cerebral edema, tension pneumocephalus and failure of the brain to expand due to cerebro-cranial disproportion may develop after chronic SDH drainage. Among them, intracerebral hemorrhage after evacuation of a recurrent chronic SDH is very rare. Here, we report a fatal case of delayed intracerebral hemorrhage caused by coagulopathy following evacuation of a chronic SDH. Possible pathogenic mechanisms of this unfavorable complication are discussed and a review of pertinent literature is included.
- Successful treatment of post-shunt craniocerebral disproportion by coupling gradual external cranial vault distraction with continuous intracranial pressure monitoring. [JOURNAL ARTICLE]
- J Neurosurg Pediatr 2013 Mar 29.
A subset of hydrocephalic patients in whom shunts are placed at an early age will develop craniocerebral disproportion (CCD), an iatrogenic mismatch between the fixed intracranial volume and the growing brain. The lack of a reliable, reproducible method to diagnose this condition, however, has hampered attempts to treat it appropriately. For those practitioners who acknowledge the need to create more intracranial space in these patients, the lack of agreed-upon therapeutic end points for cranial vault expansion has limited the use of such techniques and has sometimes led to problems of underexpansion. Here, the authors present a definition of CCD based primarily on the temporal correlation of plateau waves on intracranial pressure (ICP) monitoring and headache exacerbation. The authors describe a technique of exploiting continued ICP monitoring during progressive cranial expansion in which the goal of distraction is the cessation of plateau waves. Previously encountered problems of underexpansion may be mitigated through the simultaneous use of ICP monitors and gradual cranial expansion over time.
- Omphalocele in the first trimester: prediction of perinatal outcome. [Journal Article]
- Prenat Diagn 2013 May; 33(5):497-501.
This study aims to evaluate the perinatal outcomes of fetuses with isolated omphalocele diagnosed before 14 weeks of gestation (WG) and determine whether visceral-abdominal disproportion (ratio between mean omphalocele diameter and transverse abdominal diameter) and omphalocele contents can predict neonatal morbidity.This is a retrospective cohort study of omphaloceles diagnosed before 14 WG at three tertiary centers between January 1998 and January 2010. In the group of isolated omphaloceles (i.e., euploid and no other malformation), ratio of visceral-abdominal disproportion and omphalocele contents were evaluated as predictors of perinatal morbidity.Among 153 fetal omphaloceles diagnosed before 14 WG, 74 were excluded because of abnormal karyotype or other malformations. Among the 79 isolated fetal omphaloceles, the survival rate at birth was 68% (54/79), with a global morbidity rate of 33% (18/54). Of the live born fetuses, 92.6% (50/54) survived the neonatal period, and 96% (48/50) without long-term sequelae. There was a significant increase in neonatal morbidity when the ratio of disproportion was greater than 0.8 or when the liver was contained in the omphalocele in the first trimester.In cases of isolated omphalocele in the first trimester, visceral-abdominal disproportion and omphalocele contents predict perinatal morbidity. © 2013 John Wiley & Sons, Ltd.
- Women With Abdominal Aortic Aneurysms Have More Extensive Aortic Neck Pathology. [JOURNAL ARTICLE]
- Ann Vasc Surg 2013 Mar 19.
BACKGROUND:The proportion of women with abdominal aortic aneurysm (AAA) treated with endovascular aortic repair (EVAR) is lower than for open repair (OR). Unfavorable morphologic features for EVAR in women with AAA may explain this disproportion. The objective of this study was to identify morphologic features in AAA patients undergoing elective repair with special emphasis on gender differences.
METHODS:Patients undergoing elective repair from January 1, 2006 to December 31, 2008 at our university's vascular unit were included in this study. Computed tomography (CT) angiograms were analyzed. Morphologic features considered unfavorable for EVAR rather than open repair (OR) included: infrarenal aortic neck <15 mm; angulation >60°; circumferential neck thrombus; neck width >32 mm; iliac arteries <7.5 mm; or presence of bi-iliac aneurysms. Complex aortic neck was defined as a neck length of <15 mm and one or more of the other aortic neck exclusion criteria.
RESULTS:One hundred seventy-two patients, including 140 men and 32 women, were treated during the study period, which included 99 with OR (21 women, 78 men) and 73 with EVAR (11 women, 62 men). Morphologic unsuitability for EVAR was 44% (75 of 172) and was not statistically different between women and men [47% (15 of 32) vs. 43% (60 of 140), P = 0.70]. Aortic neck pathology was the dominating feature for unsuitability for EVAR (69 of 75, 92%), and 85 of 172 patients had an unsuitable aortic neck. This rate was not different between women and men [19 of 32 (59%) vs. 66 of 140 (47%), P = 0.24]. Iliac unsuitability rates were 11% (19 of 172) and were not different between women and men [4 of 32 (12%) vs. 15 of 140 (11%), P = 0.76]. In patients unsuitable for EVAR, the proximal aortic necks showed more extensive aortic neck pathology in women than in men [8 of 15 (53%) vs. 13 of 60 (22%), P = 0.02]. More men had only short neck pathology [22 of 60 (37%) vs. 1 of 15 (7%), P = 0.03].
CONCLUSIONS:Aortic neck pathology is the dominating cause of EVAR exclusion in both genders. A higher proportion of women have more pathologic neck anatomy. Future development of EVAR devices should focus on the complexity of the aortic neck, which will benefit all AAA patients, but especially women.
- Planned home births assisted by nurse midwives: maternal and neonatal transfers. [JOURNAL ARTICLE]
- Rev Esc Enferm USP 2013 Feb; 47(1):15-21.
The objective of this explorative and descriptive study was to describe the rates and reasons for intrapartum transfers from home to hospital among women assisted by nurse midwives, and the outcomes of those deliveries. The sample consisted of eleven women giving birth and their newborns, from January 2005 to December 2009. Data was collected from the maternal and neonatal records and was analyzed using descriptive statistics. The transfer rate was 11%, most of the women were nulliparous (63.6%), and all of them were transferred during the first stage of labor. The most common reasons for transfer were arrested cervical dilation, arrested progress of the fetal head and cephalopelvic disproportion. Apgar scores were >7 for 81.8% of the newborns; and there were no admissions to the neonatal intensive care unit. The results show that planned home births assisted by nurse midwives following a clinical protocol, had good outcomes even when a transfer to the hospital was needed.
- A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies. [Journal Article]
- Neuromuscul Disord 2013 May; 23(5):432-6.
MYH7 mutations are an established cause of Laing distal myopathy, myosin storage myopathy, and cardiomyopathy, as well as additional myopathy subtypes. We report a novel MYH7 mutation (p.Leu1597Arg) that arose de novo in two unrelated probands. Proband 1 has a myopathy characterized by distal weakness and prominent contractures and histopathology typical of multi-minicore disease. Proband 2 has an axial myopathy and histopathology consistent with congenital fiber type disproportion. These cases highlight the broad spectrum of clinical and histological patterns associated with MYH7 mutations, and provide further evidence that MYH7 is likely responsible for a greater proportion of congenital myopathies than currently appreciated.