Long-term efficacy of combined relaxation: biofeedback treatments for chronic headache.

Thirty-four patients having chronic idiopathic headaches participated in a long-term study comparing autogenic relaxation training alone (REL) with combinations of relaxation and electromyographic biofeedback (REL + EMG) or relaxation and temperature biofeedback (REL + TEMP). Assignment to treatment conditions was balanced on demographics and clinical characteristics, as well as headache classification according to muscle contraction or vascular headache symptomatology. The results indicate that REL + TEMP produced no additional improvements over REL following the 8-week treatment program, or at 6-month, or 12-month follow-up. However, REL + EMG produced significantly greater reductions in headache activity measures than the REL and REL + TEMP conditions at all post-treatment time points. Headache activity continued to improve over the follow-up period independent of treatment condition. These data indicate that EMG biofeedback augments long-term clinical improvements in headache patients who undergo autogenic relaxation training.     

Hearing impairment as an early sign of alpha‐mannosidosis in children with a mild phenotype: Report of seven new cases

Alpha‐mannosidosis (AM) is a very rare (prevalence: 1/500000 births) autosomal recessive lysosomal storage disorder. It is characterized by multi‐systemic involvement associated with progressive intellectual disability, hearing loss, skeletal anomalies, and coarse facial features. The spectrum is wide, from very severe and lethal to a milder phenotype that usually progresses slowly. AM is caused by a deficiency of lysosomal alpha‐mannosidase. A diagnosis can be established by measuring the activity of lysosomal alpha‐mannosidase in leucocytes and screening for abnormal urinary excretion of mannose‐rich oligosaccharides. Genetic confirmation is obtained with the identification of MAN2B1 mutations. Enzyme replacement therapy (LAMZEDE^R) was approved for use in Europe in August 2018. Here, we describe seven individuals from four families, diagnosed at 3–23 years of age, and who were referred to a clinical geneticist for etiologic exploration of syndromic hearing loss, associated with moderate learning disabilities. Exome sequencing had been used to establish the molecular diagnosis in five cases, including a two‐sibling pair. In the remaining two patients, the diagnosis was obtained with screening of urinary oligosaccharides excretion and the association of deafness and hypotonia. These observations emphasize that the clinical diagnosis of AM can be challenging, and that it is likely an underdiagnosed rare cause of syndromic hearing loss. Exome sequencing can contribute significantly to the early diagnosis of these nonspecific mild phenotypes, with advantages for treatment and management.     

Two large French pedigrees with non syndromic sensorineural deafness and the mitochondrial DNA T7511C mutation: evidence for a modulatory factor

Hearing impairment is the most frequent sensory defect in children, with a genetic basis in about 50% of cases. Several point mutations and deletions in mitochondrial DNA (mtDNA) have been identified in non-syndromic sensorineural hearing loss (NSSNHL). Beside the frequent A1555G mutation, a number of mutations in tRNAs have been reported recently, but their incidence remains unknown. We identified the T7511C mutation in the tRNASer(UCN) gene in two French families with isolated deafness. Maternal transmission was obvious in both. The 15 patients with hearing impairment exhibited a variable disease phenotype in terms of onset, severity, and progression. T7511C was present in all the patients screened. Homoplasmic and heteroplasmic levels were observed and did not correlate with the severity of the disease. T7511C was also present in 12 hearing offspring of the oldest deaf mothers, confirming the existence of modulatory factors. Our data suggest that this mtDNA mutation should be screened for in all cases of familial NSSNHL compatible with maternal transmission.     

A Topographic study of differences in the P300 between introverts and extraverts

This paper presents results of a study to establish a link between neurocognitive psychophysiological and psychological type data through the investigation of differences in topographic auditory event-related potential (AERP) (P300) patterns in strongly introverted (n = 17) and strongly extraverted ( = 16) high school males as identified by the Myers Briggs Type Indicator. Group data files were created for the auditory event related potential task and converted to ASCII form. Amplitude values were evaluated at each scalp site. Kruskal Wallis one way analysis of variance was performed to evaluate group differences. In processing of infrequent, target stimuli, the amplitude of the P300 waveform for introverts was higher than for extraverts. When processing for non-target stimuli was subtracted from target stimuli, statistical differences were found over nine central, parietal, and occipital sites. The findings support and extend theories of biologically-based and bio-psycho-social typology.     

Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity

Sensorineural hearing defect and goiter are common features of Pendred's syndrome. The clinical diagnosis of Pendred's syndrome remains difficult because of the lack of sensitivity and specificity of the thyroid signs. The identification of PDS as the causative gene allowed molecular screening and enabled a re-evaluation of the syndrome to identify potential diagnostic characteristics. This report presents the clinical and genotypic findings of 30 French families, for whom a diagnosis of Pendred's syndrome had been made. Twenty-seven families had at least one mutated allele. Twenty-eight different mutations were identified, 11 of which had never been previously reported. The main clinical characteristics were: early hearing loss, fluctuation in terms of during deafness evolution, and the presence of an enlarged vestibular aqueduct.     

Laparoscopic ovarian drilling for women with anovulatory polycystic ovarian syndrome: a district general hospital experience

This is a retrospective study involving 100 anovulatory women with polycystic ovarian syndrome (PCOS) who had laparoscopic ovarian drilling (LOD) between January 1995 and May 2002 at the Royal Berkshire Hospital, Reading, a large district general hospital (DGH). The aim was to evaluate the efficacy of LOD in the treatment of women with anovulatory PCOS in a DGH setting. We also looked at the factors predicting the clinical outcome to be able to counsel the patients pre-operatively. The study showed that the spontaneous pregnancy rate after LOD was 32.46%. A further 28.5% conceived after induction of ovulation with clomiphene citrate (CC) or purified follicular stimulating hormone (Metrodin HP), with a cumulative pregnancy rate of 74%. We did not find a significant difference in the luteinising hormone to follicular stimulating hormone (LH:FSH) ratio of greater than 2.5, LH level of greater than 10 IU/l, body mass index (BMI), age or duration of infertility between the group of women who conceived and those who failed to conceive, in response to LOD.     

Totally Implantable Wireless Ultrasonic Doppler Blood Flowmeters: Toward Accurate Miniaturized Chronic Monitors

Totally implantable wireless ultrasonic blood flowmeters provide direct-access chronic vessel monitoring in hard-to-reach places without using wired bedside monitors or imaging equipment. Although wireless implantable Doppler devices are accurate for most applications, device size and implant lifetime remain vastly underdeveloped. We review past and current approaches to miniaturization and implant lifetime extension for wireless implantable Doppler devices and propose approaches to reduce device size and maximize implant lifetime for the next generation of devices. Additionally, we review current and past approaches to accurate blood flow measurements. This review points toward relying on increased levels of monolithic customization and integration to reduce size. Meanwhile, recommendations to maximize implant lifetime should include alternative sources of power, such as transcutaneous wireless power, that stand to extend lifetime indefinitely. Coupling together the results will pave the way for ultra-miniaturized totally implantable wireless blood flow monitors for truly chronic implantation.     

Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause

Nager syndrome belongs to the group of acrofacial dysostosis, which are characterized by the association of craniofacial and limb malformations. Recently, exome sequencing studies identified the SF3B4 gene as the cause of this condition in most patients. SF3B4 encodes a highly conserved protein implicated in mRNA splicing and bone morphogenic protein (BMP) signaling. We performed SF3B4 sequencing in 14 families (18 patients) whose features were suggestive of Nager syndrome and found nine mutations predicted to result in loss‐of‐function. SF3B4 is the major gene responsible for autosomal dominant Nager syndrome. All mutations reported predict null alleles, therefore precluding genotype–phenotype correlations. Most mutation‐negative patients were phenotypically indistinguishable from patients with mutations, suggesting genetic heterogeneity.     

Delineation of EFTUD2 Haploinsufficiency‐Related Phenotypes Through a Series of 36 Patients

Mandibulofacial dysostosis, Guion‐Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects. MFDGA emerges as a clinically recognizable entity, long underdiagnosed due to highly variable presentations. The main differential diagnoses are CHARGE and Feingold syndromes, oculoauriculovertebral spectrum, and other MFDs. EFTUD2, located on 17q21.31, encodes a component of the major spliceosome and is disease causing in MFDGA, due to heterozygous loss‐of‐function (LoF) mutations. Here, we describe a series of 36 cases of MFDGA, including 24 previously unreported cases, and we review the literature in order to delineate the clinical spectrum ascribed to EFTUD2 LoF. MFD, external ear anomalies, and intellectual deficiency occur at a higher frequency than microcephaly. We characterize the evolution of the facial gestalt at different ages and describe novel renal and cerebral malformations. The most frequent extracranial malformation in this series is OA, followed by CHDs and skeletal abnormalities. MFDGA is probably more frequent than other syndromic MFDs such as Nager or Miller syndromes. Although the wide spectrum of malformations complicates diagnosis, characteristic facial features provide a useful handle.     

The impact of race on outcomes following emergency surgery: an American College of Surgeons National Surgical Quality Improvement Program assessment

Background

Despite significant evolutions in health care, outcome discrepancies exist among demographic cohorts. We sought to determine the impact of race on emergency surgery outcomes.

Methods

This is a retrospective review of the American College of Surgeons National Surgical Quality Improvement Program database (2005 through 2009) for all patients aged ≥16 years undergoing emergency abdominal surgery. Primary outcomes included morbidity and mortality.

Results

We identified 75,280 patients (mean age 48.2 ± 19.9 years, 51.7% female; 79% white, 9.9% black, 5.0% Hispanic, 3.7% Asian, 1.3% American Indian or Alaskan, .2% Pacific Islander). Annual rates of emergency operations ranged from 7.3% to 8.5% (P = .22). The overall complication (18.6%) and mortality rate (4.6%) was highest in the black population (24.3%, 5.3%) followed by whites (18.7%, 4.6%), with the lowest rate in Hispanic (11.7%, 1.8%) and Pacific Islander populations (10.2%, 1.8%; P < .001). Compared with whites, blacks had a 1.25-fold (1.17 to 1.34; P < .001) increased risk of complications, but similar mortality (P = .168). When combining minorities, overall complications were 1.059-fold (1.004 to 1.12; P = .034) higher, however, mortality was reduced 1.7-fold (1.07 to 1.34; P = .001).

Conclusions

Following emergency abdominal surgery, minority race is independently associated with increased complications and reduced mortality.