Postoperative apnea among premature or anemic infants undergoing inguinal hernia repair

Introduction: Premature or anemic newborns undergoing hernia repair are prone to more postoperative complications than full-term infants. The incidence of respiratory complications among these patients is more than 30%, being postoperative apnea the most common. Some investigators found that gestational and postconceptional age, the presence of continuing apneic episodes and anemia are the main determinants of postoperative apnea. It seems that infants who do not receive intravenous anesthetics experience less respiratory complications. Intravenous anesthetics have hepatic metabolism for elimination and the immature liver of the premature has not sufficient elimination capacity. Materials and Methods: Study participants were 1047 neonates with post conceptual age (PCA) lower than 60 weeks undergoing inguinal hernia operation. Sevoflurane gas mask was used for anesthesia induction and during deep anesthesia, caudal block was administered using 1cc/kg bupivacaine 2%. The neonates were managed with spontaneous breathing with Sevoflurane gas mask or endotracheal tube until the end of the operation. Results: In the present study, 916 (87.5%) male and 131 (12.5%) female neonates were included. Mean gestational age and PCA were 36.62 ± 38.0 and 46.80 ± 45.60 weeks respectively. Postoperative apnea did not occur in any patient. Conclusion: Many studies confirm our findings that inhaled sedative drugs without hepatic or renal metabolism are safe for sedation of premature or anemic infants

Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy

Epidermolysis bullosa (EB) is caused by mutations in as many as 19 distinct genes. We have developed a next-generation sequencing (NGS) panel targeting genes known to be mutated in skin fragility disorders, including tetraspanin CD151 expressed in keratinocytes at the dermal-epidermal junction. The NGS panel was applied to a cohort of 92 consanguineous families of unknown subtype of EB. In one family, a homozygous donor splice site mutation in CD151 (NM_139029; c.351 + 2T > C) at the exon 5/intron 5 border was identified, and RT-PCR and whole transcriptome analysis by RNA-seq confirmed deletion of the entire exon 5 encoding 25 amino acids. Immunofluorescence of proband's skin and Western blot of skin proteins with a monoclonal antibody revealed complete absence of CD151. Transmission electron microscopy showed intracellular disruption and cell-cell dysadhesion of keratinocytes in the lower epidermis. Clinical examination of the 33-year old proband, initially diagnosed as Kindler syndrome, revealed widespread blistering, particularly on pretibial areas, poikiloderma, nail dystrophy, loss of teeth, early onset alopecia, and esophageal webbing and strictures. The patient also had history of nephropathy with proteinuria. Collectively, the results suggest that biallelic loss-of-function mutations in CD151 underlie an autosomal recessive mechano-bullous disease with systemic features. Thus, CD151 should be considered as the 20th causative, EB-associated gene

Pain assessment tool with electrodermal activity for postoperative patients: Method validation study

Background: Accurate, objective pain assessment is required in the health care domain and clinical settings for appropriate pain management. Automated, objective pain detection from physiological data in patients provides valuable information to hospital staff and caregivers to better manage pain, particularly for patients who are unable to self-report. Galvanic skin response (GSR) is one of the physiologic signals that refers to the changes in sweat gland activity, which can identify features of emotional states and anxiety induced by varying pain levels. This study used different statistical features extracted from GSR data collected from postoperative patients to detect their pain intensity. To the best of our knowledge, this is the first work building pain models using postoperative adult patients instead of healthy subjects.Objective: The goal of this study was to present an automatic pain assessment tool using GSR signals to predict different pain intensities in noncommunicative, postoperative patients.Methods: The study was designed to collect biomedical data from postoperative patients reporting moderate to high pain levels. We recruited 25 participants aged 23-89 years. First, a transcutaneous electrical nerve stimulation (TENS) unit was employed to obtain patients' baseline data. In the second part, the Empatica E4 wristband was worn by patients while they were performing low-intensity activities. Patient self-report based on the numeric rating scale (NRS) was used to record pain intensities that were correlated with objectively measured data. The labels were down-sampled from 11 pain levels to 5 different pain intensities, including the baseline. We used 2 different machine learning algorithms to construct the models. The mean decrease impurity method was used to find the top important features for pain prediction and improve the accuracy. We compared our results with a previously published research study to estimate the true performance of our models.Results: Four different binary classification models were constructed using each machine learning algorithm to classify the baseline and other pain intensities (Baseline [BL] vs Pain Level [PL] 1, BL vs PL2, BL vs PL3, and BL vs PL4). Our models achieved higher accuracy for the first 3 pain models than the BioVid paper approach despite the challenges in analyzing real patient data. For BL vs PL1, BL vs PL2, and BL vs PL4, the highest prediction accuracies were achieved when using a random forest classifier (86.0, 70.0, and 61.5, respectively). For BL vs PL3, we achieved an accuracy of 72.1 using a k-nearest-neighbor classifier.Conclusions: We are the first to propose and validate a pain assessment tool to predict different pain levels in real postoperative adult patients using GSR signals. We also exploited feature selection algorithms to find the top important features related to different pain intensities.</p

A Microwave-Based Microfluidic Cell Detecting Biosensor for Biological Quantification Using the Metallic Nanowire-Filled Membrane Technology

A label-free, sensitive, miniaturized sensing device was developed for detecting living cells in their flow stream. The outstanding performance of this biosensor in distinguishing living cells in cell suspension was achieved by integrating microstrip stub resonator above a microfluidic structure using the metallic nanowire-filled membrane technology. The cell suspension flows in a microfluidic channel placed between the tip of the stub resonator and its ground plane as the substrate to take advantage of the uniform and concentrated field distribution. We studied the changes in relative permittivity due to the presence of a single living cell in the phase of the transmitted signal (S21). An average variation of as much as 22.85 ± 1.65° at ~11.1 GHz is observed for the living cell sensing using this optimized device. This biosensor could detect rapid flowing cells in their biological medium in real-time and hence, can be used as an early diagnosis and monitoring tool for diseases

Evaluation of the Relationship between Troponin T Level and Prognosis of Preterm Neonates Admitted to Neonatal Intensive Care Unit of Fatemieh Hospital in Hamadan

Background and Objective: Due to the prevalence of myocardial dysfunction and Patent Ductus Arteriosus (PDA) in a large number of preterm neonates, the prognosis of these infants is highly related to their early diagnosis and treatment. In this regard, the present study aimed to determine the relationship between troponin T level and the prognosis of premature neonates admitted to the Neonatal Intensive Care Unit (NICU) of Fatemieh Hospital in Hamadan. Materials and Methods: In this cross-sectional study, a certain number of infants who underwent serum levels of troponin T from 72 hours to one week after birth were assessed for demographic information, length of hospital stay, complications during hospitalization, acidosis, inotropic agents, recovery, and mortality, as well as their relationship with troponin level. Results: Out of 61 neonates, 22 patients had large PDA with a troponin level of 436±50.2 pg/ml, 14 patients had a small PDA with a troponin level of 260.5±89.8 pg/ml, and 25 patients were without PDA with a troponin level of 277.1±229.7 pg /ml (P = 0.203). There was no statistically significant difference between the three groups. The mean levels of troponin were 423±521 and 274±154 pg/ml in deceased and surviving neonates, respectively (P=0.194). Inotropic was significantly higher in deceased patients (P=0.003), and troponin T level was statistically significant (P=0.008). The relationship between troponin level and severe acidosis (P=0.051) was not significant, with a small difference that could be clinically valuable. Conclusion: Serum troponin T level was higher in preterm neonates with large PDA and deceased ones who received inotropic agents due to hemodynamic disorders and severe acidosis

NGLY1 deficiency: Novel variants and literature review

NGLY1 deficiency is a recently described autosomal recessive disorder, involved in deglycosylation of proteins, and for that reason grouped as the congenital disorders of deglycosylation together with the lysosomal storage disorders. The typical phenotype is characterized by intellectual disability, liver malfunctioning, muscular hypotonia, involuntary movements, and decreased or absent tear production. Liver biopsy demonstrates vacuolar amorphous cytoplasmic storage material. NGLY1 deficiency is caused by bi-allelic variants in NGLY1 which catalyzes protein deglycosylation. We describe five patients from two families with NGLY1 deficiency due to homozygosity for two novel NGLY1 variants, and compare their findings to those of earlier reported patients. The typical features of the disorder are present in a limited way, and there is intra-familial variability. In addition in one of the families the muscle atrophy and posture abnormalities are marked. These can be explained either as variability of the phenotype or as sign of slowly progression of features as the present affected individuals are older than earlier reported patients

Widespread aplasia cutis congenita in sibs with PLEC1 and ITGB4 variants

Aplasia cutis congenita (ACC) is a heterogeneous group of disorders characterized by localized or widespread absence of skin. ACC can occur isolated or as part of a syndrome. Here we report two consanguineous families, each with two affected offspring. Affected individuals showed widespread ACC while the skin in between had a normal appearance. Ears and nose of the four patients were underdeveloped, otherwise there were no unusual physical characteristics and no internal organ anomalies. “Whole” exome sequencing (WES) of the mother of Family 1 yielded a pathogenic heterozygote variant in ITGB4. The father and healthy offspring were heterozygous for the same variant. WES of the mother of Family 2 yielded a variant in PLEC1. The father and grandmother, who had a history of two offspring with fatal ACC, were heterozygous for the same variant. PLEC1 and ITGB4 have both been previously been reported in association with ACC. We compare findings in earlier reported individuals with variants in ITGB4 and PLEC1, and provide a short summary of other entities going along with ACC