New multiplex real-time PCR approach to detect gene mutations for spinal muscular atrophy

Abstract

Background

Spinal muscular atrophy (SMA) is the most common autosomal recessive disease in children, and the diagnosis is complicated and difficult, especially at early stage. Early diagnosis of SMA is able to improve the outcome of SMA patients. In our study, Real-time PCR was developed to measure the gene mutation or deletion of key genes for SMA and to further analyse genotype-phenotype correlation.

Methods

The multiple real-time PCR for detecting the mutations of survival of motor neuron (SMN), apoptosis inhibitory protein (NAIP) and general transcription factor IIH, polypeptide 2 gene (GTF2H2) was established and confirmed by DNA sequencing and multiplex ligation-dependent probe amplification (MLPA). The diagnosis and prognosis of 141 hospitalized children, 100 normal children and further 2000 cases of dry blood spot (DBS) samples were analysed by this multiple real-time PCR.

Results

The multiple real-time PCR was established and the accuracy of it to detect the mutations of SMN, NAIP and GTF2H2 was at least 98.8 % comparing with DNA sequencing and MLPA. Among 141 limb movement disorders children, 75 cases were SMA. 71 cases of SMA (94.67 %) were with SMN c.840 mutation, 9 cases (12 %) with NAIP deletion and 3 cases (4 %) with GTF2H2 deletion. The multiple real-time PCR was able to diagnose and predict the prognosis of SMA patients. Simultaneously, the real-time PCR was applied to detect trace DNA from DBS and able to make an early diagnosis of SMA.

Conclusion

The clinical and molecular characteristics of SMA in Southwest of China were presented. Our work provides a novel way for detecting SMA in children by using real-time PCR and the potential usage in newborn screening for early diagnosis of SMA.

from #MedicinebyAlexandrosSfakianakis via xlomafota13 on Inoreader http://ift.tt/2byAQnL
via IFTTT

Corynebacterium cutis Lysate Treatment Can Increase the Efficacies of PPR Vaccine

Journal of Interferon & Cytokine Research , Vol. 0, No. 0.


from #MedicinebyAlexandrosSfakianakis via xlomafota13 on Inoreader http://ift.tt/2b0kwA2
via IFTTT

Doctor, PAP thyself: commentary on Yasmin R, Muntham D, and Chirakalwasan N’s Uncovering the sleep disorders among young doctors

from #MedicinebyAlexandrosSfakianakis via xlomafota13 on Inoreader http://ift.tt/2bfgXmK
via IFTTT

Uncovering the sleep disorders among young doctors

Abstract

Purpose

Sleepiness and tiredness are common complaints among young doctors. Sleep deprivation is believed to be the main culprit. However, we believe that there may be other sleep disorders which may contribute to these symptoms such as occult obstructive sleep apnea (OSA).

Methods

A prospective cross-sectional study was performed among young doctors less than 40 years old, working at King Chulalongkorn Memorial Hospital, Bangkok, Thailand, and Hospital Kuala Lumpur, Kuala Lumpur, Malaysia, using questionnaires and home sleep apnea testing (Apnealink™Plus). The primary objective of this study was to evaluate the prevalence of OSA (apnea-hypopnea index (AHI) ≥5). The secondary objectives were to evaluate the prevalence of obstructive sleep apnea syndrome (OSAS) defined by AHI ≥5 + excessive daytime sleepiness (EDS), sleep deprivation (the difference of weekend (non-workdays) and weekday (workdays) wake-up time of at least 2 h), EDS (Epworth Sleepiness Scale score ≥10), tiredness, and perception of inadequate sleep as well as to identify their predictors.

Results

Total of 52 subjects completed the study. Mean age and mean body mass index (BMI) were 31.3 ± 4 and 23.3 ± 3.6, respectively. The prevalence of OSA and OSAS were 40.4 and 5.8 %, respectively. One third of OSA subjects were at least moderate OSA. Prevalence of sleep deprivation, EDS, tiredness, and perception of inadequate sleep were 44.2, 15.4, 65.4, and 61.5 %, respectively. History of snoring, being male, and perception of inadequate sleep were significant predictors for OSA with the odds ratio of 34.5 (p = 0.016, 95 % CI = 1.92–619.15), 18.8 (p = 0.001, 95 % CI = 3.10–113.41), and 7.4 (p = 0.037, 95 % CI = 1.13–48.30), respectively. Only observed apnea was a significant predictor for OSAS with odds ratio of 30.7 (p = 0.012, 95 % CI = 2.12–442.6). Number of naps per week was a significant predictor for EDS with the odds ratio of 1.78 (p = 0.007, 95 % CI = 1.17–2.71). OSA and total number of call days per month were significant predictors for tiredness with the odds ratio of 4.8 (p = 0.036, 95 % CI = 1.11–20.72) and 1.3 (p = 0.050, 95 % CI = 1.0004–1.61), respectively. OSA was the only significant predictor for perception of inadequate sleep with the odd ratios of 4.5 (p = 0.022, 95 % CI = 1.24–16.59).

Conclusions

Our results demonstrated relatively high prevalence of OSA and OSAS among young doctors. Snoring, being male, and perception of inadequate sleep were significant predictors for OSA. Observed apnea was a significant predictor for OSAS. OSA was a significant predictor for tiredness and perception of inadequate sleep.

from #MedicinebyAlexandrosSfakianakis via xlomafota13 on Inoreader http://ift.tt/2bCkH3l
via IFTTT

Could tea polyphenols be beneficial for preventing the precocious puberty?

Publication date: Available online 16 August 2016
Source:Medical Hypotheses
Author(s): Youmei Wu, Jialu Wang, Wei Cai, Xiuhua Shen
Precocious puberty which impacts children physically and psychologically has become one of the health problem over the world. However, the mechanism and preventive measures of precocious puberty is still not clear. Recent studies suggested that leptin may act as the 'permissive factor' to initiate the puberty by regulating gonadotrophin-releasing hormone secretion. Previous evidence from animal and human studies found that tea polyphenols can reduce serum leptin levels in vivo and inhibit the expression of leptin in adipose tissue. This article focus on whether tea polyphenols could delay the onset of puberty by reducing leptin levels. To verify the possibility of tea polyphenols on preventing precocious puberty, animal experiment can be used. Our hypothesis that tea polyphenols could prevent the precocious puberty may provide important potential way for the prevention and control of children precocious puberty.



from #MedicinebyAlexandrosSfakianakis via xlomafota13 on Inoreader http://ift.tt/2b1Xiny
via IFTTT

Location of a biliary leak after liver resection determines success of endoscopic treatment

Abstract

Background

Bile leaks after hepatic resection are serious complications associated with substantial morbidity and mortality. The aim of this prospective observational study was to determine the therapeutic success of endoscopic treatment of biliary leakage after liver resection.

Patients and methods

Grade B biliary leaks were considered for endoscopic treatment in patients after liver resection between 1/09 and 4/12. Endoscopic treatment (sphincterotomy only, plastic stent distal to leak or bridging) was defined as successful when the patient remained without symptoms after drain removal and without extravasation follow-up ERC 8 weeks later.

Results

Overall rate of biliary leak was 7.4 % (61/826). 35 patients with a grade B bile leak were considered for endoscopic treatment. 22 (63 %) had bile leaks that were peripherally located, and 13 (37 %) had bile leaks at central location. In 3 patients, sphincterotomy only was performed; in 19 patients, a stent distal to the leak and in 13 patients, a bridging stent was inserted. The overall success rate was 74 % (26/35 patients). Endoscopic treatment failed in 26 % (9/35), and mortality rate was 11 % (4/35). In all patients with leaks located at the right or left hepatic duct, treatment with the bridging stent was successful.

Conclusion

Endoscopic therapy for biliary leakage after liver resection is safe and effective and should be considered as a first-line therapy in patients who are suitable for an interventional, non-surgical approach. Patients with a centrally located leak who are treated with a bridging stent are more likely to benefit from endoscopic intervention.

from #MedicinebyAlexandrosSfakianakis via xlomafota13 on Inoreader http://ift.tt/2bdHrpb
via IFTTT

Modulation of Upper Esophageal Sphincter (UES) Relaxation and Opening During Volume Swallowing

Abstract

UES opening occurs following cricopharyngeus deactivation and submental muscle contraction causing hyolaryngeal elevation and UES distraction. During impedance manometry, the inverse of impedance (admittance) can be used to measure bolus presence and infer UES opening. We hypothesized that the temporal relationship between UES relaxation, opening and hyolaryngeal elevation would change with increasing bolus volume. Simultaneous intramuscular cricopharyngeal (CP) electromyography (EMG), surface submental EMG (SM-EMG), and high-resolution impedance manometry were recorded in eight (aged 27 ± 7 years, 5 M) healthy volunteers, while swallowing 0.9 % saline boluses of 2, 5, 10, and 20 ml. Data were exported and analyzed via Matlab. Statistical analysis comprised repeated measures one-way ANOVA and Pearson correlation. A P value of <0.05 was considered significant. Duration of CP deactivation increased at 20 ml volume (P < 0.001). UES relaxation and opening increased with increasing bolus volume (P < 0.001); however, overall duration of SM activation did not change. As UES opening occurs progressively earlier with increasing volumes, peak SM-EMG activity occurs relatively later (P < 0.001) and shifts from occurring before to following peak UES distention. During healthy swallowing, there is sensory modulation of cricopharyngeal and submental muscle activity. Intrabolus pressures, transmitted from the tongue base and pharynx, play a progressively more important role in sphincter opening with increasing volume. The findings may explain why some healthy elderly and patients with oropharyngeal dysphagia have difficulty swallowing larger while tolerating smaller bolus volumes.

from #MedicinebyAlexandrosSfakianakis via xlomafota13 on Inoreader http://ift.tt/2b04aBz
via IFTTT