Search results for: anal stenosis
Commenced in January 2007
Frequency: Monthly
Edition: International
Paper Count: 103

Search results for: anal stenosis

13 Assess the Risk Behaviours and Safer Sex Practices among Male Attendees in a Sexual Health Setting

Authors: B. M. M. D. Mendis, L. I. Rajapaksa, P. S. K. Gunathunga, R. C. Fernando, M. Jayalath

Abstract:

Background / introduction: During the year 2011, 8511 males received services from the sexual health clinics island wide. At present there is only limited information on the risk behaviours of male attendees. Information on risk behaviours related to STI /HIV transmission is helpful in planning suitable prevention interventions. Aim(s)/objectives: The objectives were to determines the sexual partners (other than the marital partner and regular partners) responsible for transmitting STI( Sexually transmitted infections)/ HIV and to understand the practice of safer sex. Methods: Study was a clinic based prospective study conducted for a one year period using an interviewer administered questionnaire. Results: 983 attendees were interviewed. . Mean age was 34.02 years. 75% of the sample had completed GCE O/L (ordinary level examination). Skilled labourers, drivers and forces/police comprised 40% of the sample. 50% admitted sex with a casual female, 12% with a casual male, and 13% with CSW (commercial sex workers) while MSW (male sex workers) exposures were minimal. It was identified that younger males had more contacts with males, and regular female partners while more older males with CSW. Anal sex among males was reported by 11.5%. 20.5% used alcohol frequently and 5.9% used drugs and 1.4% injected. Common STI were genital herpes (7.9%), Non gonococcal urethritis (6.2%) and gonorrhoea (6.2%). Among those who had contacts with FSW 6.7% gonorrhoea (GC), 8.2% non gonococcal urethritis (NGU), 7.5% genital herpes and 0.7% HIV. Non regular partner exposures 3.7% had gonorrhoea, 8.3% NGU, 6.6% genital herpes and 0.8% HIV. Among MSM contacts 10.6% had GC, 4.5% NGU, 5.3% genital herpes, 5.3% secondary syphilis and 0.8% HIV. Only 9.0% used condoms correctly. Friends, doctors, newspapers, internet, and forces were important sources of information on condoms. Non use of condoms were due to worry about satisfaction (24.6%) and faith in the partner (25.6%). Discussion/conclusion: Casual partners for unsafe sex is a concern. MSM and CSW are remained as an important source of infection. Early Syphilis and gonorrhoea infections were mostly seen among MSM exposures. The findings indicate that the male population in the sample had satisfactory education. However, still the unsafe sexual contacts are common. . Newspapers, internet were more important sources of information on condoms. Low condom use remains another concern.. More males contracted STI through casual partners. Therefore strategies used for prevention need to be revisited also emphasizing on general population where casual partners represent. . Increasing awareness of men and women through mass media and primary health care teams may be important strategies that can be used to keep the HIV epidemic in a low level.

Keywords: STI, HIV, Males, safe sex practices

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12 Non-Invasive Assessment of Peripheral Arterial Disease: Automated Ankle Brachial Index Measurement and Pulse Volume Analysis Compared to Ultrasound Duplex Scan

Authors: Jane E. A. Lewis, Paul Williams, Jane H. Davies

Abstract:

Introduction: There is, at present, a clear and recognized need to optimize the diagnosis of peripheral arterial disease (PAD), particularly in non-specialist settings such as primary care, and this arises from several key facts. Firstly, PAD is a highly prevalent condition. In 2010, it was estimated that globally, PAD affected more than 202 million people and furthermore, this prevalence is predicted to further escalate. The disease itself, although frequently asymptomatic, can cause considerable patient suffering with symptoms such as lower limb pain, ulceration, and gangrene which, in worse case scenarios, can necessitate limb amputation. A further and perhaps the most eminent consequence of PAD arises from the fact that it is a manifestation of systemic atherosclerosis and therefore is a powerful predictor of coronary heart disease and cerebrovascular disease. Objective: This cross sectional study aimed to individually and cumulatively compare sensitivity and specificity of the (i) ankle brachial index (ABI) and (ii) pulse volume waveform (PVW) recorded by the same automated device, with the presence or absence of peripheral arterial disease (PAD) being verified by an Ultrasound Duplex Scan (UDS). Methods: Patients (n = 205) referred for lower limb arterial assessment underwent an ABI and PVW measurement using volume plethysmography followed by a UDS. Presence of PAD was recorded for ABI if < 0.9 (noted if > 1.30) if PVW was graded as 2, 3 or 4 or a hemodynamically significant stenosis > 50% with UDS. Outcome measure was agreement between measured ABI and interpretation of the PVW for PAD diagnosis, using UDS as the reference standard. Results: Sensitivity of ABI was 80%, specificity 91%, and overall accuracy 88%. Cohen’s kappa revealed good agreement between ABI and UDS (k = 0.7, p < .001). PVW sensitivity 97%, specificity 81%, overall accuracy 84%, with a good level of agreement between PVW and UDS (k = 0.67, p < .001). The combined sensitivity of ABI and PVW was 100%, specificity 76%, and overall accuracy 85% (k = 0.67, p < .001). Conclusions: Combing these two diagnostic modalities within one device provided a highly accurate method of ruling out PAD. Such a device could be utilized within the primary care environment to reduce the number of unnecessary referrals to secondary care with concomitant cost savings, reduced patient inconvenience, and prioritization of urgent PAD cases.

Keywords: ankle brachial index, peripheral arterial disease, pulse volume waveform, ultrasound duplex scan

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11 Spatial Distribution and Cluster Analysis of Sexual Risk Behaviors and STIs Reported by Chinese Adults in Guangzhou, China: A Representative Population-Based Study

Authors: Fangjing Zhou, Wen Chen, Brian J. Hall, Yu Wang, Carl Latkin, Li Ling, Joseph D. Tucker

Abstract:

Background: Economic and social reforms designed to open China to the world has been successful, but also appear to have rapidly laid the foundation for the reemergence of STIs since 1980s. Changes in sexual behaviors, relationships, and norms among Chinese contributed to the STIs epidemic. As the massive population moved during the last 30 years, early coital debut, multiple sexual partnerships, and unprotected sex have increased within the general population. Our objectives were to assess associations between residences location, sexual risk behaviors and sexually transmitted infections (STIs) among adults living in Guangzhou, China. Methods: Stratified cluster sampling followed a two-step process was used to select populations aged 18-59 years in Guangzhou, China. Spatial methods including Geographic Information Systems (GIS) were utilized to identify 1400 coordinates with latitude and longitude. Face-to-face household interviews were conducted to collect self-report data on sexual risk behaviors and diagnosed STIs. Kulldorff’s spatial scan statistic was implemented to identify and detect spatial distribution and clusters of sexual risk behaviors and STIs. The presence and location of statistically significant clusters were mapped in the study areas using ArcGIS software. Results: In this study, 1215 of 1400 households attempted surveys, with 368 refusals, resulting in a sample of 751 completed surveys. The prevalence of self-reported sexual risk behaviors was between 5.1% and 50.0%. The self-reported lifetime prevalence of diagnosed STIs was 7.06%. Anal intercourse clustered in an area located along the border within the rural-urban continuum (p=0.001). High rate clusters for alcohol or other drugs using before sex (p=0.008) and migrants who lived in Guangzhou less than one year (p=0.007) overlapped this cluster. Excess cases for sex without a condom (p=0.031) overlapped the cluster for college students (p<0.001). Conclusions: Short-term migrants and college students reported greater sexual risk behaviors. Programs to increase safer sex within these communities to reduce the risk of STIs are warranted in Guangzhou. Spatial analysis identified geographical clusters of sexual risk behaviors, which is critical for optimizing surveillance and targeting control measures for these locations in the future.

Keywords: cluster analysis, migrant, sexual risk behaviors, spatial distribution

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10 Characteristics of Clinical and Diagnostic Aspects of Benign Diseases of Cervi̇x in Women

Authors: Gurbanova J., Majidova N., Ali-Zade S., Hasanova A., Mikailzade P.

Abstract:

Currently, the problem of oncogynecological diseases is widespread and remains relevant in terms of quantitative growth. It is known that due to the increase in the number of benign diseases of the cervix, the development of precancerous conditions occurs. Benign diseases of the cervix represent the most common gynecological problem, which are often precursors of malignant neoplasms, especially cervical cancer. According to statistics, benign diseases of the cervix cover 25-45% of all gynecological diseases. Among women's oncogynecological diseases, cervical cancer ranks second in the world after breast cancer and ranks first in the mortality rate among oncological diseases in economically underdeveloped countries. We performed a comprehensive clinical and laboratory examination of 130 women aged 18 to 73 with benign cervical diseases. 59 (38.5%) women of reproductive age, as well as 39 (30%) premenopausal and 41 (31.5%) menopausal patients, participated in the study. Detailed anamnesis was collected from all patients, objective and gynecological examination was performed, laboratory and instrumental examinations (USM, IPV DNA, smear microscopy, and PCR bacteriological examination of sexually transmitted infections), simple and extended colposcopy, liquid-based РАР-smear smear and РАР-classic smear examinations were conducted. As a result of the research, the following nosological forms were found in women with benign diseases of the cervix: non-specific vaginitis in 10 (7.7%) cases; ectopia, endocervicitis - 60(46.2%); cervical ectropion - 7(5.4%); cervical polyp - 9(6.9%); cervical leukoplakia - 15(11.5%); atrophic vaginitis - 7(5.4%); condyloma - 12(9.2%); cervical stenosis - 2(1.5%); endometriosis of the cervix - was noted in 8 (6.2%) cases (p<0.001), respectively. Characteristics of the menstrual cycle among the examined women: normal cycle in 97 (74.6%) cases; oligomenorrhea – 23 (17.7%); polymenorrhea – 4(3.1%); algomenorrhea – noted in 6 (4.6%) cases (p<0.001). Cytological examination showed that: the specificity of liquid-based cytology was 76.2%, and the traditional PAP test was set at 70.6%. The overall diagnostic value was calculated to be 86% in liquid-based cytology and 78.5% in conventional PAP tests. Treatment of women with benign diseases of the cervix was carried out by diathermocoagulation method and "FOTEK EA 141M" device. It should be noted that 6 months after the treatment, after treatment with the "FOTEK EA 141M" device, there was no relapse in any patient. Recurrence was found in 23.7% of patients after diathermoelectrocoagulation. Thus, it is clear from the above that the study of cervical pathologies, the determination of optimal examinations, and effective treatment methods is one of the urgent problems facing obstetrics and gynecology.

Keywords: cervical cancer, cytological examination, PAP-smear, non-specific vaginitis

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9 Evaluation of Human Amnion Hemocompatibility as a Substitute for Vessels

Authors: Ghasem Yazdanpanah, Mona Kakavand, Hassan Niknejad

Abstract:

Objectives: An important issue in tissue engineering (TE) is hemocompatibility. The current engineered vessels are seriously at risk of thrombus formation and stenosis. Amnion (AM) is the innermost layer of fetal membranes that consists of epithelial and mesenchymal sides. It has the advantages of low immunogenicity, anti-inflammatory and anti-bacterial properties as well as good mechanical properties. We recently introduced the amnion as a natural biomaterial for tissue engineering. In this study, we have evaluated hemocompatibility of amnion as potential biomaterial for tissue engineering. Materials and Methods: Amnions were derived from placentas of elective caesarean deliveries which were in the gestational ages 36 to 38 weeks. Extracted amnions were washed by cold PBS to remove blood remnants. Blood samples were obtained from healthy adult volunteers who had not previously taken anti-coagulants. The blood samples were maintained in sterile tubes containing sodium citrate. Plasma or platelet rich plasma (PRP) were collected by blood sample centrifuging at 600 g for 10 min. Hemocompatibility of the AM samples (n=7) were evaluated by measuring of activated partial thromboplastin time (aPTT), prothrombin time (PT), hemolysis, and platelet aggregation tests. P-selectin was also assessed by ELISA. Both epithelial and mesenchymal sides of amnion were evaluated. Glass slide and expanded polytetrafluoroethylene (ePTFE) samples were defined as control. Results: In comparison with glass as control (13.3 ± 0.7 s), prothrombin time was increased significantly while each side of amnion was in contact with plasma (p<0.05). There was no significant difference in PT between epithelial and mesenchymal surfaces (17.4 ± 0.7 s vs. 15.8 ± 0.7 s, respectively). However, aPPT was not significantly changed after incubation of plasma with amnion epithelial and mesenchymal surfaces or glass (28.61 ± 1.39 s, 31.4 ± 2.66 s, glass, 30.76 ± 2.53 s, respectively, p>0.05). Amnion surfaces, ePTFE and glass samples have less hemolysis induction than water considerably (p<0.001), in which no differences were detected. Platelet aggregation measurements showed that platelets were less stimulated by the amnion epithelial and mesenchymal sides, in comparison with ePTFE and glass. In addition, reduction in amount of p-selectin, as platelet activation factor, after incubation of samples with PRP indicated that amnion has less stimulatory effects on platelets than ePTFE and glass. Conclusion: Amnion as a natural biomaterial has the potential to be used in tissue engineering. Our results suggest that amnion has appropriate hemocompatibility to be employed as a vascular substitute.

Keywords: amnion, hemocompatibility, tissue engineering, biomaterial

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8 Computational Simulations and Assessment of the Application of Non-Circular TAVI Devices

Authors: Jonathon Bailey, Neil Bressloff, Nick Curzen

Abstract:

Transcatheter Aortic Valve Implantation (TAVI) devices are stent-like frames with prosthetic leaflets on the inside, which are percutaneously implanted. The device in a crimped state is fed through the arteries to the aortic root, where the device frame is opened through either self-expansion or balloon expansion, which reveals the prosthetic valve within. The frequency at which TAVI is being used to treat aortic stenosis is rapidly increasing. In time, TAVI is likely to become the favoured treatment over Surgical Valve Replacement (SVR). Mortality after TAVI has been associated with severe Paravalvular Aortic Regurgitation (PAR). PAR occurs when the frame of the TAVI device does not make an effective seal against the internal surface of the aortic root, allowing blood to flow backwards about the valve. PAR is common in patients and has been reported to some degree in as much as 76% of cases. Severe PAR (grade 3 or 4) has been reported in approximately 17% of TAVI patients resulting in post-procedural mortality increases from 6.7% to 16.5%. TAVI devices, like SVR devices, are circular in cross-section as the aortic root is often considered to be approximately circular in shape. In reality, however, the aortic root is often non-circular. The ascending aorta, aortic sino tubular junction, aortic annulus and left ventricular outflow tract have an average ellipticity ratio of 1.07, 1.09, 1.29, and 1.49 respectively. An elliptical aortic root does not severely affect SVR, as the leaflets are completely removed during the surgical procedure. However, an elliptical aortic root can inhibit the ability of the circular Balloon-Expandable (BE) TAVI devices to conform to the interior of the aortic root wall, which increases the risk of PAR. Self-Expanding (SE) TAVI devices are considered better at conforming to elliptical aortic roots, however the valve leaflets were not designed for elliptical function, furthermore the incidence of PAR is greater in SE devices than BE devices (19.8% vs. 12.2% respectively). If a patient’s aortic root is too severely elliptical, they will not be suitable for TAVI, narrowing the treatment options to SVR. It therefore follows that in order to increase the population who can undergo TAVI, and reduce the risk associated with TAVI, non-circular devices should be developed. Computational simulations were employed to further advance our understanding of non-circular TAVI devices. Radial stiffness of the TAVI devices in multiple directions, frame bending stiffness and resistance to balloon induced expansion are all computationally simulated. Finally, a simulation has been developed that demonstrates the expansion of TAVI devices into a non-circular patient specific aortic root model in order to assess the alterations in deployment dynamics, PAR and the stresses induced in the aortic root.

Keywords: tavi, tavr, fea, par, fem

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7 Neonatal Sepsis in Dogs Attend in Veterinary Hospital of the Sao Paulo State University, Botucatu, Brazil – Incidence, Clinical Aspects and Mortality

Authors: Maria Lucia G. Lourenco, Keylla H. N. P. Pereira, Vivane Y. Hibaru, Fabiana F. Souza, Joao C. P. Ferreira, Simone B. Chiacchio, Luiz H. A. Machado

Abstract:

Neonatal sepsis is a systemic response to the acute generalized infection caused by one or more bacterial agents, representing the main infectious cause of neonatal mortality in dogs during the first three weeks of life. This study aims to describe the incidence of sepsis in neonate dogs, as well as the main clinical signs and mortality rates. The study included 735 neonates admitted to the Sao Paulo State University (UNESP) Veterinary Hospital, Botucatu, Sao Paulo, Brazil, between January 2018 and November 2019. Seven hundred thirty-five neonates, 14% (98/703) presented neonatal sepsis. The main sources of infection for the neonates were intrauterine (72.5%, 71/98), lactogenic (13.2%, 13/98), umbilical (5.1%, 5/98) and unidentified sources (9.2%, 9/98). The main non-specific clinical signs observed in the newborns were weakness, depression, impaired or absent reflexes, hypothermia, hypoglycemia, dehydration, reduced muscle tonus and diarrhea. The newborns also manifested clinical signs of severe infection, such as hyperemia in the abdominal and anal regions, omphalitis, hematuria, abdomen and extremities with purplish-blue coloration necrosing injuries in the pads, bradycardia, dyspnea, epistaxis, hypotension and evolution to septic shock. Infections acquired during intrauterine life led to the onset of the clinical signs at the time of birth, with fast evolution during the first hours of life. On the other hand, infections acquired via milk or umbilical cord presented clinical signs later. The total mortality rate was 5.4% (38/703) and the mortality rate among the neonates with sepsis was 38.7% (38/98). The early mortality rate (0 to 2 days) accounted for 86.9% (33/38) and the late mortality rate (3 to 30 days) for 13.1% (5/38) of the deaths among the newborns with sepsis. The main bacterial agents observed were Staphylococcus spp., Streptococcus spp., Proteus spp. Mannheimia spp. and Escherichia coli. Neonatal sepsis evolves quickly and may lead to high mortality in a litter. The prognosis is usually favorable if the diagnosis is reached early and the antibiotic therapy instituted as soon as possible, even before the results of blood cultures and antibiograms. The therapeutic recommendations should meet the special physiological conditions of a neonate in terms of metabolism and excretion of medication. Therefore, it is of utmost importance that the veterinarian is knowledgeable regarding neonatology to provide effective intervention and improve the survival rates of these patients.

Keywords: Neonatal infection , bacteria, puppies, newborn

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6 Frequency of Surgical Complications in Diabetic Patients after Kidney Transplantation

Authors: Hakan Duger, Alparslan Ersoy, Canan Ersoy

Abstract:

The improvement of surgical techniques in recent years has reduced the frequency of postoperative complications in kidney transplant recipients. Novel immunosuppressive agents have reduced rates of graft loss due to acute rejection to less than 1%. However, surgical complications may still lead graft loss and morbidity in recipients. Because of potent immunosuppression, impaired wound healing and complications are frequent after transplantation. We compared the frequency of post-operative surgical complications in diabetic and non-diabetic patients after kidney transplantation. Materials and Methods: This retrospective study conducted in consecutive patients (213 females, 285 males, median age 39 years) who underwent kidney transplant surgery at our center between December 2005 and October 2015. The patients were divided into two groups: diabetics (46 ± 10 year, 26 males, 16 females) and non-diabetics (39 ± 12 year, 259 males, 197 females). Characteristics of both groups were obtained from medical records. Results: We performed 225 living and 273 deceased donor transplantations. Renal replacement type was hemodialysis in 60.8%, peritoneal dialysis in 17.3% and preemptive in 12%. The mean body mass indexes of the recipients were 24 ± 4.6 kg/m², donor age was 48.6 ± 14.3 years, cold ischemic time was 11.3 ± 6.1 hours, surgery time was 4.9 ± 1.2 hours, and recovery time was 54±31 min. The mean hospitalization duration was 19.1 ± 13.5 days. The frequency of postoperative surgical complications was 43.8%. There was no significant difference between the ratios of post-operative surgical complications in non-diabetic (43.5%) and diabetic (47.4%) groups (p=0.648). Post-operative surgical complications were lymphocele (24.6% vs. 23.7%), delayed wound healing (13.2% vs. 7.6%), hematoma (7.8% vs.15.8 %), urinary leak (4.6% vs. 5.3%), hemorrhage (5.1% vs. 0%), hydronephrosis (2.2% vs. 0%), renal artery thrombosis (1.5% vs. 0%), renal vein thrombosis (1% vs. 2.6%), urinoma (0.7% vs. 0%), urinary obstruction (0.5% vs. 0%), ureteral stenosis (0.5% vs. 0%) and ureteral reflux (0.2% vs. 0%) in non-diabetic and diabetic groups, respectively (p > 0.05). Mean serum creatinine levels in non-diabetics and diabetics were 1.43 ± 0.81 and 1.61 ± 0.96 mg/dL at 1st month (p=0.198). At the 6th month, the mean graft and patient survival times in patients with post-operative surgical complications were significantly lower than in those who did not (162.9 ± 3.4 vs. 175.6 ± 1.5 days, p=0.008, and 171 ± 2.9 vs. 176.1 ± 1.6 days, p=0.047, respectively). However, patient survival durations of non-diabetic (173 ± 27) and diabetic (177 ± 13 day) groups were comparable (p=0.396). Conclusion: As a result, we concluded that surgical complications such as lymphocele and delayed wound healing were common and that frequency of these complications in diabetic recipients did not differ from non-diabetic one. All persons involved in the postoperative care of kidney transplant recipients be aware of the potential surgical complications for rapid diagnosis and treatment.

Keywords: kidney transplantation, diabetes mellitus, surgery, complication

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5 Neonatology Clinical Routine in Cats and Dogs: Cases, Main Conditions and Mortality

Authors: Maria L. G. Lourenço, Keylla H. N. P. Pereira, Viviane Y. Hibaru, Fabiana F. Souza, João C. P. Ferreira, Simone B. Chiacchio, Luiz H. A. Machado

Abstract:

The neonatal care of cats and dogs represents a challenge to veterinarians due to the small size of the newborns and their physiological particularities. In addition, many Veterinary Medicine colleges around the world do not include neonatology in the curriculum, which makes it less likely for the veterinarian to have basic knowledge regarding neonatal care and worsens the clinical care these patients receive. Therefore, lack of assistance and negligence have become frequent in the field, which contributes towards the high mortality rates. This study aims at describing cases and the main conditions pertaining to the neonatology clinical routine in cats and dogs, highlighting the importance of specialized care in this field of Veterinary Medicine. The study included 808 neonates admitted to the São Paulo State University (UNESP) Veterinary Hospital, Botucatu, São Paulo, Brazil, between January 2018 and November 2019. Of these, 87.3% (705/808) were dogs and 12.7% (103/808) were cats. Among the neonates admitted, 57.3% (463/808) came from emergency c-sections due to dystocia, 8.7% (71/808) cane from vaginal deliveries with obstetric maneuvers due to dystocia, and 34% (274/808) were admitted for clinical care due to neonatal conditions. Among the neonates that came from emergency c-sections and vaginal deliveries, 47.3% (253/534) was born in respiratory distress due to severe hypoxia or persistent apnea and required resuscitation procedure, such as the Jen Chung acupuncture point (VG26), oxygen therapy with mask, pulmonary expansion with resuscitator, heart massages and administration of emergency medication, such as epinephrine. On the other hand, in the neonatal clinical care, the main conditions and alterations observed in the newborns were omphalophlebitis, toxic milk syndrome, neonatal conjunctivitis, swimmer puppy syndrome, neonatal hemorrhagic syndrome, pneumonia, trauma, low weight at birth, prematurity, congenital malformations (cleft palate, cleft lip, hydrocephaly, anasarca, vascular anomalies in the heart, anal atresia, gastroschisis, omphalocele, among others), neonatal sepsis and other local and systemic bacterial infections, viral infections (feline respiratory complex, parvovirus, canine distemper, canine infectious traqueobronchitis), parasitical infections (Toxocara spp., Ancylostoma spp., Strongyloides spp., Cystoisospora spp., Babesia spp. and Giardia spp.) and fungal infections (dermatophytosis by Microsporum canis). The most common clinical presentation observed was the neonatal triad (hypothermia, hypoglycemia and dehydration), affecting 74.6% (603/808) of the patients. The mortality rate among the neonates was 10.5% (85/808). Being knowledgeable about neonatology is essential for veterinarians to provide adequate care for these patients in the clinical routine. Adding neonatology to college curriculums, improving the dissemination of information on the subject, and providing annual training in neonatology for veterinarians and employees are important to improve immediate care and reduce the mortality rates.

Keywords: neonatal care, puppies, neonatal, conditions

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4 Germline Mutations of Mitogen-Activated Protein Kinases Pathway Signaling Pathway Genes in Children

Authors: Nouha Bouayed Abdelmoula, Rim Louati, Nawel Abdellaoui, Balkiss Abdelmoula, Oldez Kaabi, Walid Smaoui, Samir Aloulou

Abstract:

Background and Aims: Cardiofaciocutaneous syndrome (CFC) is an autosomal dominant disorder with the vast majority of cases arising by a new mutation of BRAF, MEK1, MEK2, or rarely, KRAS genes. Here, we report a rare Tunisian case of CFC syndrome for whom we identify SOS1 mutation. Methods: Genomic DNA was obtained from peripheral blood collected in an EDTA tube and extracted from leukocytes using the phenol/chloroform method according to standard protocols. High resolution melting (HRM) analysis for screening of mutations in the entire coding sequence of PTPN11 was conducted first. Then, HRM assays to look for hot spot mutations coding regions of the other genes of the RAS-MAPK pathway (RAt Sarcoma viral oncogene homolog Mitogen-Activated Protein Kinases Pathway): SOS1, SHOC2, KRAS, RAF1, KRAS, NRAS, CBL, BRAF, MEK1, MEK2, HRAS, and RIT1, were applied. Results: Heterozygous SOS1 point mutation clustered in exon 10, which encodes for the PH domain of SOS1, was identified: c.1655 G > A. The patient was a 9-year-old female born from a consanguineous couple. She exhibited pulmonic valvular stenosis as congenital heart disease. She had facial features and other malformations of Noonan syndrome, including macrocephaly, hypertelorism, ptosis, downslanting palpebral fissures, sparse eyebrows, a short and broad nose with upturned tip, low-set ears, high forehead commonly associated with bitemporal narrowing and prominent supraorbital ridges, short and/or webbed neck and short stature. However, the phenotype is also suggestive of CFC syndrome with the presence of more severe ectodermal abnormalities, including curly hair, keloid scars, hyperkeratotic skin, deep plantar creases, and delayed permanent dentition with agenesis of the right maxillary first molar. Moreover, the familial history of the patient revealed recurrent brain malignancies in the paternal family and epileptic disease in the maternal family. Conclusions: This case report of an overlapping RASopathy associated with SOS1 mutation and familial history of brain tumorigenesis is exceptional. The evidence suggests that RASopathies are truly cancer-prone syndromes, but the magnitude of the cancer risk and the types of cancer partially overlap.

Keywords: cardiofaciocutaneous syndrome, CFC, SOS1, brain cancer, germline mutation

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3 Study of Silent Myocardial Ischemia in Type 2 Diabeic Males: Egyptian Experience

Authors: Ali Kassem, Yhea Kishik, Ali Hassan, Mohamed Abdelwahab

Abstract:

Introduction: Accelerated coronary and peripheral vascular atherosclerosis is one of the most common and chronic complications of diabetes mellitus. A recent aspect of coronary artery disease in this condition is its silent nature. The aim of the work: Detection of the prevalence of silent myocardial ischemia (SMI) in Upper Egypt type 2 diabetic males and to select male diabetic population who should be screened for SMI. Patients and methods: 100 type 2 diabetic male patients with a negative history of angina or anginal equivalent symptoms and 30 healthy control were included. Full medical history and thorough clinical examination were done for all participants. Fasting and post prandial blood glucose level, lipid profile, (HbA1c), microalbuminuria, and C-reactive protein were done for all participants Resting ECG, trans-thoracic echocardiography, treadmill exercise ECG, myocardial perfusion imaging were done for all participants and patients positive for one or more NITs were subjected for coronary angiography. Results Twenty nine patients (29%) were positive for one or more NITs in the patients group compared to only one case (3.3%) in the controls. After coronary angiography, 20 patients were positive for significant coronary artery stenosis in the patients group, while it was refused to be done by the patient in the controls. There were statistical significant difference between the two groups regarding, hypertension, dyslipidemia and obesity, family history of DM and IHD with higher levels of microalbuminuria, C-reactive protein, total lipids in patient group versus controls According to coronary angiography, patients were subdivided into two subgroups, 20 positive for SMI (positive for coronary angiography) and 80 negative for SMI (negative for coronary angiography). No statistical difference regarding family history of DM and type of diabetic therapy was found between the two subgroups. Yet, smoking, hypertension, obesity, dyslipidemia and family history of IHD were significantly higher in diabetics positive versus those negative for SMI. 90% of patients in subgroup positive for SMI had two or more cardiac risk factors while only two patients had one cardiac risk factor (10%). Uncontrolled DM was detected more in patients positive for SMI. Diabetic complications were more prevalent in patients positive for SMI versus those negative for SMI. Most of the patients positive for SMI have DM more than 5 years duration. Resting ECG and resting Echo detected only 6 and 11 cases, respectively, of the 20 positive cases in group positive for SMI compared to treadmill exercise ECG and myocardial perfusion imaging that detected 16 and 18 cases respectively, Conclusion: Type 2 diabetic male patients should be screened for detection of SMI when aged above 50 years old, diabetes duration is more than 5 years, presence of two or more cardiac risk factors and/or patients suffering from one or more of the chronic diabetic complications. CRP, is an important parameter for selection of type 2 diabetic male patients who should be screened for SMI. Non invasive cardiac tests are reliable for screening of SMI in these patients in our locality.

Keywords: C-reactive protein, Silent myocardial ischemia, Stress tests, type 2 DM

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2 Prediction of Endotracheal Tube Size in Children by Predicting Subglottic Diameter Using Ultrasonographic Measurement versus Traditional Formulas

Authors: Parul Jindal, Shubhi Singh, Priya Ramakrishnan, Shailender Raghuvanshi

Abstract:

Background: Knowledge of the influence of the age of the child on laryngeal dimensions is essential for all practitioners who are dealing with paediatric airway. Choosing the correct endotracheal tube (ETT) size is a crucial step in pediatric patients because a large-sized tube may cause complications like post-extubation stridor and subglottic stenosis. On the other hand with a smaller tube, there will be increased gas flow resistance, aspiration risk, poor ventilation, inaccurate monitoring of end-tidal gases and reintubation may also be required with a different size of the tracheal tube. Recent advancement in ultrasonography (USG) techniques should now allow for accurate and descriptive evaluation of pediatric airway. Aims and objectives: This study was planned to determine the accuracy of Ultrasonography (USG) to assess the appropriate ETT size and compare it with physical indices based formulae. Methods: After obtaining approval from Institute’s Ethical and Research committee, and parental written and informed consent, the study was conducted on 100 subjects of either sex between 12-60 months of age, undergoing various elective surgeries under general anesthesia requiring endotracheal intubation. The same experienced radiologist performed ultrasonography. The transverse diameter was measured at the level of cricoids cartilage by USG. After USG, general anesthesia was administered using standard techniques followed by the institute. An experienced anesthesiologist performed the endotracheal intubations with uncuffed endotracheal tube (Portex Tracheal Tube Smiths Medical India Pvt. Ltd.) with Murphy’s eye. He was unaware of the finding of the ultrasonography. The tracheal tube was considered best fit if air leak was satisfactory at 15-20 cm H₂O of airway pressure. The obtained values were compared with the values of endotracheal tube size calculated by ultrasonography, various age, height, weight-based formulas and diameter of right and left little finger. The correlation of the size of the endotracheal tube by different modalities was done and Pearson's correlation coefficient was obtained. The comparison of the mean size of the endotracheal tube by ultrasonography and by traditional formula was done by the Friedman’s test and Wilcoxon sign-rank test. Results: The predicted tube size was equal to best fit and best determined by ultrasonography (100%) followed by comparison to left little finger (98%) and right little finger (97%) and age-based formula (95%) followed by multivariate formula (83%) and body length (81%) formula. According to Pearson`s correlation, there was a moderate correlation of best fit endotracheal tube with endotracheal tube size by age-based formula (r=0.743), body length based formula (r=0.683), right little finger based formula (r=0.587), left little finger based formula (r=0.587) and multivariate formula (r=0.741). There was a strong correlation with ultrasonography (r=0.943). Ultrasonography was the most sensitive (100%) method of prediction followed by comparison to left (98%) and right (97%) little finger and age-based formula (95%), the multivariate formula had an even lesser sensitivity (83%) whereas body length based formula was least sensitive with a sensitivity of 78%. Conclusion: USG is a reliable method of estimation of subglottic diameter and for prediction of ETT size in children.

Keywords: endotracheal intubation, pediatric airway, subglottic diameter, traditional formulas, ultrasonography

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1 Categorical Metadata Encoding Schemes for Arteriovenous Fistula Blood Flow Sound Classification: Scaling Numerical Representations Leads to Improved Performance

Authors: George Zhou, Yunchan Chen, Candace Chien

Abstract:

Kidney replacement therapy is the current standard of care for end-stage renal diseases. In-center or home hemodialysis remains an integral component of the therapeutic regimen. Arteriovenous fistulas (AVF) make up the vascular circuit through which blood is filtered and returned. Naturally, AVF patency determines whether adequate clearance and filtration can be achieved and directly influences clinical outcomes. Our aim was to build a deep learning model for automated AVF stenosis screening based on the sound of blood flow through the AVF. A total of 311 patients with AVF were enrolled in this study. Blood flow sounds were collected using a digital stethoscope. For each patient, blood flow sounds were collected at 6 different locations along the patient’s AVF. The 6 locations are artery, anastomosis, distal vein, middle vein, proximal vein, and venous arch. A total of 1866 sounds were collected. The blood flow sounds are labeled as “patent” (normal) or “stenotic” (abnormal). The labels are validated from concurrent ultrasound. Our dataset included 1527 “patent” and 339 “stenotic” sounds. We show that blood flow sounds vary significantly along the AVF. For example, the blood flow sound is loudest at the anastomosis site and softest at the cephalic arch. Contextualizing the sound with location metadata significantly improves classification performance. How to encode and incorporate categorical metadata is an active area of research1. Herein, we study ordinal (i.e., integer) encoding schemes. The numerical representation is concatenated to the flattened feature vector. We train a vision transformer (ViT) on spectrogram image representations of the sound and demonstrate that using scalar multiples of our integer encodings improves classification performance. Models are evaluated using a 10-fold cross-validation procedure. The baseline performance of our ViT without any location metadata achieves an AuROC and AuPRC of 0.68 ± 0.05 and 0.28 ± 0.09, respectively. Using the following encodings of Artery:0; Arch: 1; Proximal: 2; Middle: 3; Distal 4: Anastomosis: 5, the ViT achieves an AuROC and AuPRC of 0.69 ± 0.06 and 0.30 ± 0.10, respectively. Using the following encodings of Artery:0; Arch: 10; Proximal: 20; Middle: 30; Distal 40: Anastomosis: 50, the ViT achieves an AuROC and AuPRC of 0.74 ± 0.06 and 0.38 ± 0.10, respectively. Using the following encodings of Artery:0; Arch: 100; Proximal: 200; Middle: 300; Distal 400: Anastomosis: 500, the ViT achieves an AuROC and AuPRC of 0.78 ± 0.06 and 0.43 ± 0.11. respectively. Interestingly, we see that using increasing scalar multiples of our integer encoding scheme (i.e., encoding “venous arch” as 1,10,100) results in progressively improved performance. In theory, the integer values do not matter since we are optimizing the same loss function; the model can learn to increase or decrease the weights associated with location encodings and converge on the same solution. However, in the setting of limited data and computation resources, increasing the importance at initialization either leads to faster convergence or helps the model escape a local minimum.

Keywords: arteriovenous fistula, blood flow sounds, metadata encoding, deep learning

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