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1.
Artículo | IMSEAR | ID: sea-219275

RESUMEN

Concomitant mitral and aortic valve stenosis in a patient with mitral annular calcification and porcelain aorta poses a unique problem to the surgical team. Transcatheter aortic and mitral valve replacements in native valves offer a viable option for such selected group of patients. We present the case of a 54-year-old male who presented with severe aortic stenosis (AS) and severe mitral stenosis (MS) but was deemed high risk for surgery owing to intense calcification of the aorta and mitral annular calcification, and successfully underwent transcatheter double native valve replacement.

2.
Artículo | IMSEAR | ID: sea-216954

RESUMEN

Background: Infantile haemangiomas (IHs) are the most common vascular tumours of infancy. In recenttime oral propranolol has achieved great success in treating IHs. To minimize the systemic side events caused by oral propranolol, topical timolol started to be applied in the treatment of IHs, especially for superficial lesions. Methods: We treated 50 children with superficial IHs using oral propranolol on 25 patients and, topical timolol on 25 patients and investigated the efficacy and safety of the two treatment patterns. Results: Both oral propranolol and topical timolol achieved a satisfactory therapeutic outcome, with an effective response rate of 96 and 95.4%, respectively. No significant differences in visual analogy scale (VAS) improvement between the two groups were observed. Systemic adverse events for patients treated with oral propranolol (3.9%) was significantly higher than that for patients treated with topical timolol. Clinical response was not associated with gender, duration of treatment, lesion location, lesion size, and gestational age but closely associated with age at treatment initiation, which indicated that younger age at treatment initiation predicted for a better regression rate. Conclusion: Topical timolol could be the first-line therapy for superficial IHs because of its good efficacy and improved safety profile.

3.
Indian J Ophthalmol ; 2022 May; 70(5): 1689-1694
Artículo | IMSEAR | ID: sea-224304

RESUMEN

Purpose: To study the relevance of preoperative OCT predictors in large macular holes (MH) treated using the inverted ILM peel technique. Methods: Prospective study of 95 patients undergoing vitrectomy for large MH between January 2019 and December 2020 was performed by dividing the patients into groups depending on various quantitative parameters and indices of MH such as base diameter (BD), hole form factor (HFF), macular hole index (MHI), diameter hole index (DHI), and tractional hole index (THI) by using parameters such as minimal hole diameter, hole height, nasal and temporal arm lengths. Depending upon the duration of symptoms, patients were divided into three groups: <3 months, 3–6 months, and >6 months. Anatomical success rate, type of closure, and postoperative vision gain were analyzed in relation to the abovementioned diameters, indices, and duration to see if any significance existed. Results: The mean age of patients included in the study was 60.48 ± 13.88 years, with female preponderance (males: females = 37:58). Change in logMAR was statistically significant individually with all studied parameters (P < 0.0001) without influence of size of hole and other indices. BD and DHI levels showed significant association with type of closure as indicated by P values of 0.017 and 0.048, respectively. Duration of symptoms showed no significance in terms of anatomical and functional success. Conclusion: OCT predictors of MH success seem to have lost relevance with inverted flap surgeries as 100% anatomical success is achieved with this technique, with 95.78% (91/95) achieving type 1 closure with statistically significant equivalent functional gain across the indices with no effect of duration of symptoms.

4.
Artículo | IMSEAR | ID: sea-216924

RESUMEN

Background: Pelvi-ureteric junction obstruction (PUJO) is defined as anatomical or functional obstruction to the flow of urine from the pelvis to the upper ureter. This may be unilateral or bilateral. Most of the hydronephrosis cases are due to Pyelo-ureteral junction obstruction (PUJO) which can be diagnosed antenatally. The treatment protocol for antenatal diagnosed PUJO is standardized. Few children present later in life. Present study was done to evaluate clinical profile and outcome of infants and children (<12years) presenting with PUJO. Methods: A retrospective observational study conducted by the department of Paediatric Surgery, SDM hospital Dharwad. All children with age less than 12 years with PUJO from March 2017 to March 2020 were included in the study (n=51). Initial evaluation was done with Ultrasound KUB (Kidney, Ureter, Bladder). A diuretic renogram/ EC (Ethylene cysteine) was done to confirm the diagnosis. The children were managed both conservatively and surgically (Pyeloplasty), depending on the presentation. The children were followed up post-surgery. Results: Fifty one patients were included in the study. Mean age of presentation was 31±30 months. Most common presentation was pain abdomen which was seen in 9 patients (17.6%). 6 patients (11.7%) presented with Lump and 2(4%) presented with fever. Left kidney was commonly involved (66%). Males predominate (80%). The mean antero-posterior pelvic dimension (APPD) of involved kidney was 30mm with range from 12.5mm to 68mm. 4 (7.8%) children presented with poorly functioning kidney with split renal function less than 10%. PUJO was associated with Pelvic calculi, VUR, Horseshoe kidney, Mal-rotated kidney. Out of the 51 patients, 9 (17.6%) were kept in conservative management 42 (82.3%) underwent Pyeloplasty. Among 42, 1 underwent redopyeloplasty and 1 underwent nephrectomy. In rest of the operated patients (Post-pyeloplasty) diuretic renogram showed improved drainage with improved function. Conclusions: PUJO is common cause of urinary obstruction in children. Earlier the diagnosis, better the outcome. Delay in diagnosis or presentation leads to increased chances of renal damage and loss. Hence it is important to diagnose PUJ obstruction at the earliest and receive prompt treatment.

5.
Mycobiology ; : 501-511, 2020.
Artículo en Inglés | WPRIM | ID: wpr-902712

RESUMEN

Xylophagous termites are capable of degrading lignocellulose by symbiotic gut microorganisms along with the host’s indigenous enzymes. Therefore, the termite gut might be a potential niche to obtain natural yeasts with celluloytic, xylanolytic and ethanologenic traits required for bioethanol production from lignocellulosic biomass. In this study, we cultured 79 yeasts from three different termites viz. Coptotermes heimi, Odontotermes javanicus and Odontotermes obesus. After suitable screening methods, we identified 53 yeasts, which belonged to 10 genera and 16 different species of both ascomycetous and basidiomycetous yeasts. Most yeasts in the present study represent their first-ever isolation from the termite gut. Representative strains of identified yeasts were evaluated for their cellulolytic, xylanolytic, and ethanologenic abilities. None of the isolates showed cellulase activity; 22 showed xylanolytic activity, while six produced substantial quantities of ethanol. Among xylanolytic cultures, Pseudozyma hubeiensis STAG 1.7 and Hannaella pagnoccae STAG 1.14 produced 1.31 and 1.17 IU of xylanase. Among ethanologenic yeasts, the strains belonging to genera Candida and Kodamaea produced high amount of ethanol. Overall, highest ethanol level of 4.42 g/L was produced by Candida tropicalis TS32 using 1% glucose, which increased up to 22.92 g/L at 35 °C, pH 4.5 with 5% glucose. Fermentation of rice straw hydrolysate gave 8.95 g/l of ethanol with a yield of 0.42 g/g using the strain TS32. Our study highlights the gut of wood-feeding termites as a potential source of diverse yeasts that would be useful in the production of xylanase and bioethanol.

6.
Mycobiology ; : 501-511, 2020.
Artículo en Inglés | WPRIM | ID: wpr-895008

RESUMEN

Xylophagous termites are capable of degrading lignocellulose by symbiotic gut microorganisms along with the host’s indigenous enzymes. Therefore, the termite gut might be a potential niche to obtain natural yeasts with celluloytic, xylanolytic and ethanologenic traits required for bioethanol production from lignocellulosic biomass. In this study, we cultured 79 yeasts from three different termites viz. Coptotermes heimi, Odontotermes javanicus and Odontotermes obesus. After suitable screening methods, we identified 53 yeasts, which belonged to 10 genera and 16 different species of both ascomycetous and basidiomycetous yeasts. Most yeasts in the present study represent their first-ever isolation from the termite gut. Representative strains of identified yeasts were evaluated for their cellulolytic, xylanolytic, and ethanologenic abilities. None of the isolates showed cellulase activity; 22 showed xylanolytic activity, while six produced substantial quantities of ethanol. Among xylanolytic cultures, Pseudozyma hubeiensis STAG 1.7 and Hannaella pagnoccae STAG 1.14 produced 1.31 and 1.17 IU of xylanase. Among ethanologenic yeasts, the strains belonging to genera Candida and Kodamaea produced high amount of ethanol. Overall, highest ethanol level of 4.42 g/L was produced by Candida tropicalis TS32 using 1% glucose, which increased up to 22.92 g/L at 35 °C, pH 4.5 with 5% glucose. Fermentation of rice straw hydrolysate gave 8.95 g/l of ethanol with a yield of 0.42 g/g using the strain TS32. Our study highlights the gut of wood-feeding termites as a potential source of diverse yeasts that would be useful in the production of xylanase and bioethanol.

7.
Artículo | IMSEAR | ID: sea-201324

RESUMEN

Background: Under nutrition is significant health problem in India as well as in Chhattisgarh, recent NFHS 4 data shows that there is increase in number of children who are severely wasted from 5.6% in NFHS 3 to 8.4% in Chhattisgarh. Literature shows appropriate feeding practices and break in malnutrition infection cycle help malnourished child to recover, so present study was planned with the objective to find out the role of mother knowledge regarding feeding practices and management of minor ailments related to improvement of severe acute malnourished children discharged cured from nutritional rehabilitation centres in Chhattisgarh.Methods: A community based study was planned among children discharged as cured from NRC between March to December 2017. They were followed in community to find out socio-demographic factor, feeding practice after discharge, mother knowledge score, household dietary diversity using 24 hour recall method & anthropometric measurements.Results: Out of 156 children discharged as cured from March to December 2017, total 132 children were covered during the survey from January to June 2018. It was observed that improvement in nutritional status after discharge was significantly associated with increasing knowledge score for mother regarding nutrition and children who were separately feed after discharge from NRC.Conclusions: Mother knowledge regarding nutrition and management of minor ailments and feeding practice to child after discharge are important factors associated with the improvement of children from SAM

8.
Artículo | IMSEAR | ID: sea-201366

RESUMEN

Background: All the aspects of health status, lifestyle, life satisfaction, mental health and well-being together reflects the multidimensional nature of quality of life (QOL) in an individual. The objective of the study was to assess the quality of life among rural elderly population of Etawah district and their association with various socio demographic factors.Methods: A community based cross-sectional study was conducted among 316 elderly subjects in rural areas of Etawah district. QOL was assessed by using WHOQOL-OLD tool. Socio-demographic factors were assessed by using a self-structured questionnaire. Data was analysed by using Microsoft Excel 2010 and statistical software SPSS-22. Transformed facet sore were calculated using WHOQOL- OLD manual and Independent sample t- test were applied.Results: Majority (86%) were in the (?75) years of age. Among the study participants, 52.8% were females, 67.5% were illiterate, 72.5% belong to nuclear family. The mean scores of QOL domains was maximum in death and dying (83.20), followed by sensory ability (62.99).The lowest mean score was seen Intimacy domain (22.80). Gender, type of family, financial status and staying with partner were found to be the determinants of better QOL (p>0.05).Conclusions: The mean quality of life score was below average in intimacy domain. It was maximum in death and dying domain

9.
Artículo en Inglés | IMSEAR | ID: sea-175358

RESUMEN

Spontaneous renal hemorrhage is an unusual complication of urinary tract infection. A 56-year-old man, diabetic with single functional kidney was admitted with fever and abdominal pain for one day. He had pyuria and an obstructed renal moiety due to a lower ureteric stone. On evaluation, he was found to have a left perirenal hemorrhage. Drainage of the obstructed system was performed and hemorrhage was managed conservatively; in the postoperative period patient remained stable and was discharged. In conclusion, complicated urinary tract infection is a rare cause of the spontaneous perirenal hematoma and needs a high vigilance for diagnosis and management.

10.
Korean Journal of Anesthesiology ; : 573-578, 2016.
Artículo en Inglés | WPRIM | ID: wpr-80023

RESUMEN

BACKGROUND: Modified radical mastectomy is associated with appreciable blood loss, while endotracheal intubation leads to elevated hemodynamic responses. The present study aimed to evaluate the clinical efficacy of dexmedetomidine infusion as an anesthetic adjuvant to general anesthesia during modified radical mastectomy with I-Gel. METHODS: Sixty adult consenting female patients, of American Society of Anesthesiologists physical status 1 to 2 and aged 4,065 years, were blindly randomized into two groups of 30 patients each. The patients in Group I received intravenous dexmedetomidine at a loading dose of 1 µg/kg over 10 min, followed by maintenance infusion of 0.4 to 0.7 µg/kg/h, while patients in Group II were administered an identical amount of saline infusion until 15 min prior to the end of surgery. The primary end point was bleeding at the surgical field and hemodynamic changes; requirement of isoflurane, intraoperative fentanyl consumption and recovery time were assessed as secondary outcomes. RESULTS: The patients receiving dexmedetomidine infusion showed significantly less bleeding at the surgical field (P < 0.05). A statistically significant reduction was also observed in the percentage of isoflurane required (0.82 ± 0.80%) to maintain the systolic blood pressure between 100 and 110 mmHg in patients receiving dexmedetomidine infusion compared with the Group II (1.50 ± 0.90%). The mean intraoperative fentanyl consumption in patients in the Group I was also significantly lower compared with that of the Group II (38.43 ± 5.40 µg vs. 75.12 ± 4.60 µg). The mean recovery time from anesthesia did not show any clinically significant difference between the groups. CONCLUSIONS: Dexmedetomidine infusion can be used safely to decrease the bleeding at the surgical field with smooth recovery from anesthesia.


Asunto(s)
Adulto , Femenino , Humanos , Anestesia , Anestesia General , Presión Sanguínea , Dexmedetomidina , Fentanilo , Hemodinámica , Hemorragia , Intubación Intratraqueal , Isoflurano , Mastectomía Radical Modificada , Resultado del Tratamiento
11.
Artículo en Inglés | IMSEAR | ID: sea-166533

RESUMEN

Background: A prospective study was carried out in our hospital to predict morbidity and mortality in middle and old aged surgical patients by adding echocardiography to standard scoring system with hemodynamic studies. Methods: A total of 50 patients of either sex ranging from 40-70 years of ASA grade 1 & 2 scheduled for various types of noncardiac surgeries were enrolled for the study in our hospital. Patients were divided in two groups according to echocardiographic examinations. The patients with normal echocardiographic values were kept in control group and the patients with abnormal values were kept under study group. The patients in study group were further divided in three groups according to LVEF. Group1-LEVF≥60%, Group2-LVEF≥50-59%, Gr3≥40-49% Tab lorazepam was given to all the patients’ orally prior night of surgery. All the patients were induced with same type inducing agents according to body weight. All the patients were maintained on IPPV by anaesthesia machine with supplemental fentanyl, N2O, O2 and muscle relaxant. SPO2, electrocardiograph (ECG), Non-invasive/invasive blood pressure (BP), Spirometry, Capnography and temperature were monitored. At the end of the research project data’s were compiled systematically and were subjected to statistical analysis using odd’s ratio(OR),95% confidence interval (CI), z value and p value, two statistical software programme were used. Results: Significant difference in the results seen between the three study groups (Gr1, Gr2, Gr3) for perioperative ischemic changes, CHF and arrhythmias. Conclusions: In conclusion preoperative TTE before non-cardiac surgery can predict the risk of perioperative cardiac complications in known or suspected cases of cardiac disease patients.

12.
Artículo en Inglés | IMSEAR | ID: sea-166587

RESUMEN

Background: The addition of an adjuvant, like clonidine and fentanyl, in epidural blockade has enhanced the effectiveness of local anaesthetics as they not only help in intensifying and prolonging the blockade effect but also help in the reduction of the dose of local anaesthetics. Methods: Our study had 45 patients, all patients belonged to ASA grade-I or II, between 20 and 55 years of age requiring neuraxial blockade for lower abdominal surgeries. All the patients were randomly allocated into two groups. Group-I: Epidural ropivacaine 0.75% (14.5ml) + Fentanyl 50 μgm (1 ml) + 0.5 ml distilled water. Group-II: Epidural ropivacaine 0.75% (14.5ml) + Fentanyl 50 μgm (1 ml) + clonidine 50 μgm. Patients were monitored for sensory and motor blockade, hemodynamic parameters, rescue analgesia and adverse effects in perioperative period. Results: Highest level of sensory and motor blockade was found to be insignificant (p>0.05) in both the groups. Mean time for regression of sensory blockade to T10 was significantly longer (p<0.05) in group II as compared to group I. The duration of motor blockade was significantly (p<0.001) higher in patients of Group-II as compared to Group-I. The addition of clonidine to epidural Ropivacaine and fentanyl (Group-II) produces longer duration of analgesia as compared to Group-I. Haemodynamically the patients in both the groups behaved similarly. The patients, in whom epidural fentanyl was used, had slightly higher incidence of nausea, vomiting, dry mouth and pruritus. Conclusions: So this study re-established the fact, that the fentanyl and clonidine when added as adjuvant to epidural ropivacaine, significantly prolongs the analgesic duration without causing significant hemodynamic and respiratory changes.

13.
SJA-Saudi Journal of Anaesthesia. 2014; 8 (1): 64-68
en Inglés | IMEMR | ID: emr-138060

RESUMEN

Subarachnoid blockade can be used in all surgical procedures carried out on the infraumbilical region. This study was aimed to evaluate the clinical efficacy and safety of intrathecal fentanyl as an adjuvant to 0.75% isobaric ropivacaine on onset, duration, intensity, and recovery time of sensory and motor blockade of subarachnoid block for infra umbilical surgery. One hundred sixty adult consented patients of either gender with American Society of Anesthesiologist ASA I and II scheduled for infraumbilical surgery were randomized into two groups of 80 patients each to receive either intrathecal study solution of 4 mL of 0.75% ropivacaine with 0.4 mL of 0.9% sodium chloride [Group I-Ropivacaine Control Group RC] or fentanyl [20 micro g] [Group II-Ropivacaine with Fentanyl RF]. The end points were hemodynamic variability, onset of analgesia at T 10, maximum sensory analgesic level, time to complete motor blockade, duration of sensory and motor blockade and adequacy of surgical anesthesia. The post-spinal nausea and vomiting, shivering, pruritus, respiratory depression or any other side-effects were also assessed. At the end of study, data were systematically complied and analyzed for statistically significance. The intrathecal fentanyl has accelerated the onset time to achieve sensory blockade to T10 dermatome and motor blockade. Small dose of intrathecal fentanyl with ropivacaine has prolonged the duration of analgesia in the early post-operative period when compared with intrathecal ropivacaine alone. The intraoperative hemodynamic variability showed no statistically significant differences between groups. Intrathecal fentanyl as an adjuvant to 0.75% isobaric ropivacaine demonstrated better clinical profile as compared to ropivacaine alone


Asunto(s)
Humanos , Femenino , Masculino , Espacio Subaracnoideo , Amidas , Amidas/administración & dosificación , Fentanilo/administración & dosificación , Fentanilo , Inyecciones Espinales , Estudios Prospectivos , Ombligo
14.
SJA-Saudi Journal of Anaesthesia. 2013; 7 (2): 142-145
en Inglés | IMEMR | ID: emr-130479

RESUMEN

Anesthetic management of elderly patients is a challenge as aging makes them more susceptible to hemodynamic fluctuations during regional anesthesia. This study was aimed to compare the clinical efficacy of epidural 0.75% ropivacaine fentanyl [RF]- with 0.5% bupivacaine-fentanyl [BF] for hemiarthroplasty in high-risk elderly patients. Sixty elderly consented patients of either sex with American Society of Anesthesiologist ASA II and III, scheduled for elective hemiarthroplasty were randomized into two Groups of 30 patients to receive epidural study solution of 15 mL of 0.75% Ropivacaine or 0.5% Bupivacaine with 1 mL fentanyl [50 microg]. The hemodynamic variability with onset and duration of sensory and motor blocks were recorded. The adequacy and quality of surgical anesthesia were assessed. The post-epidural nausea and vomiting, shivering, respiratory parameters, or any other side effects were also recorded. There was no difference in the demographic profile between groups. The mean onset time to achieve sensory block to the T[10] dermatome was rapid in the Group BF [12.4 +/- 6.9 vs. 17.5 +/- 3.7 min in Group RF]. The mean time to achieve motor block was 17.5 +/- 3.4 min in Group BF versus 21.7 +/- 7.8 min in Group RF. The intraoperative hemodynamic fluctuations showed statistically significant differences between groups. The pruritis was observed in five patients but post-epidural shivering, nausea, vomiting, respiratory depression, or urinary retention were not observed in any patient. Epidural 0.75% Ropivacaine with fentanyl showed better clinical profile as compared to 0.5% Bupivacaine with fentanyl for hemiarthroplasty in elderly patients


Asunto(s)
Humanos , Femenino , Masculino , Bupivacaína/administración & dosificación , Hemiartroplastia , Fentanilo/administración & dosificación , Fentanilo , Bupivacaína , Anciano , Amidas , Amidas/administración & dosificación , Estudios Prospectivos
15.
Indian Pediatr ; 2012 October; 49(10): 799-804
Artículo en Inglés | IMSEAR | ID: sea-169491

RESUMEN

Background: There is limited literature available on the phenotypic and mutation spectrum of Indian patients with Lysosomal storage disorders (LSD). Objective: To elucidate the clinical, biochemical and mutation spectrum and to study the management options in Indian patients with lysosomal storage disorders. Design: Descriptive study. Subjects and Methods: All patients with lysosomal storage disorders diagnosed in the Medical Genetics department of a tertiary care institute in North India over a three year period from January 2008 to December 2010. Results: Out of the total of 93 patients clinically suspected to have LSDs, 68 (mean age at presentation 4.5 years) were confirmed to have LSDs based on the laboratory/neuroimaging findings and documentation of deficient enzymatic activity in the peripheral blood (leucocytes or plasma) and/or skin fibroblasts. The commonest clinical features at presentation were growth retardation (failure to thrive 47.2% and short stature 17.6%), hepatosplenomegaly (41.2%) and neuroregression (33.8%). A history of consanguinity was present in 32.4% of the families. Prenatal diagnosis was done in a total of 6 affected families; two pregnancies were found to be affected (one each with Gaucher disease and Tay Sachs disease) and in both cases the parents opted for termination of pregnancy. Of the remaining four pregnancies which were found to be unaffected and therefore continued, three were confirmed to be normal on post-natal follow up. Enzyme replacement therapy (ERT) is being given for a total of 8 LSD patients and all of them are showing a gradual amelioration of their symptoms and an improvement in the quality of life. Conclusions: Lysosomal storage disorders constitute an important group of genetic metabolic disorders for many of which therapeutic options are now available.

16.
Artículo en Inglés | IMSEAR | ID: sea-151296

RESUMEN

In the recent years scientific and technological advancements have been made in the research and development of oral drug delivery systems. The reasons that the oral route achieved such popularity may be primarily due to its ease of administration. Chewing gum is one of the very popular oral confectionary products. It is a potentially useful means of administering drugs either locally or systematically via, the oral cavity. The medicated chewing gum has through the recent years gained increasing acceptance as a drug delivery system. Chewing gum known as gum base (insoluble gum base resin) contains elastomers, emulsifiers, fillers, waxes, antioxidants, softners, sweeteners, food colorings, flavoring agents, and in case of medical chewing gum, active substances. It offers various advantages over conventional drug delivery systems. Unlike chewable tablets, medicated chewing gums are not supposed to be swallowed and may be removed from the site of application without resorting to invasive means. Moreover medicated chewing gums require the active and continuous masticatory activities for activation and continuation of drug release. An In-vitro apparatus was specially designed and constructed for release testing of medicated chewing gums. Medicated chewing gums are excellent mobile drug delivery systems for self-medication as it is convenient and can be administered discretely without water.

17.
J Biosci ; 2012 Jun; 37 (2): 221-226
Artículo en Inglés | IMSEAR | ID: sea-161663

RESUMEN

The micro-eukaryotic diversity from the human gut was investigated using universal primers directed towards 18S rRNA gene, fecal samples being the source of DNA. The subjects in this study included two breast-fed and two formula-milk-fed infants and their mothers. The study revealed that the infants did not seem to harbour any microeukaryotes in their gut. In contrast, there were distinct eukaryotic microbiota present in the mothers. The investigation is the first of its kind in the comparative study of the human feces to reveal the presence of micro-eukaryotic diversity variance in infants and adults from the Indian subcontinent. The micro-eukaryotes encountered during the investigation include known gut colonizers like Blastocystis and some fungi species. Some of these micro-eukaryotes have been speculated to be involved in clinical manifestations of various diseases. The study is an attempt to highlight the importance of micro-eukaryotes in the human gut.

18.
Indian J Hum Genet ; 2012 Jan; 18(1): 91-94
Artículo en Inglés | IMSEAR | ID: sea-139450

RESUMEN

CONTEXT: Multiplex ligation probe amplification (MLPA) is a new technique to identify deletions and duplications and can evaluate all 79 exons in dystrophin gene in patients with Duchenne muscular dystrophy (DMD). Being semi-quantitative, MLPA is also effective in detecting duplications and carrier testing of females; both of which cannot be done using multiplex PCR. It has found applications in diagnostics of many genetic disorders. AIM: To study the utility of MLPA in diagnosis and carrier detection for DMD. MATERIALS AND METHODS: Mutation analysis and carrier detection was done by multiplex PCR and MLPA and the results were compared. RESULTS AND CONCLUSIONS: We present data showing utility of MLPA in identifying mutations in cases with DMD/BMD. In the present study using MLPA, we identified mutations in additional 5.6% cases of DMD in whom multiplex PCR was not able to detect intragenic deletions. In addition, MLPA also correctly confirmed carrier status of two obligate carriers and revealed carrier status in 6 of 8 mothers of sporadic cases.


Asunto(s)
Distrofina , Femenino , Humanos , Masculino , Proteínas de la Membrana/análisis , Reacción en Cadena de la Polimerasa Multiplex/métodos , Distrofia Muscular de Duchenne/genética , Reacción en Cadena de la Polimerasa/métodos
19.
SJA-Saudi Journal of Anaesthesia. 2012; 6 (3): 219-223
en Inglés | IMEMR | ID: emr-160422

RESUMEN

Fiberoptic intubation is the gold standard technique for difficult airway management in patients of temporomandibular joint. This study was aimed to evaluate the clinical efficacy and safety of dexmedetomidine as premedication with propofol infusion for fiberoptic intubation.Consent was obtained from 46 adult patients of temporomandibular joint ankylosis, scheduled for gap arthroplasty. They were enrolled for thisdouble-blind, randomized, prospective clinical trial with two treatment groups - Group D and Group P, of 23 patients each. Group D patients had received premedication of dexmedetomidine 1microg/kg infused over 10 min followed by sedative propofol infusion and the control Group P patients were given only propofol infusion to achieve sedation. Condition achieved at endoscopy, intubating conditions, hemodynamic changes and postoperative events were evaluated as primary outcome. The fiberoptic intubation was successful with satisfactory endoscopic and intubating condition in all patients. Dexmedetomidine premedication has provided satisfactory conditions for fiberoptic intubation and attenuated the hemodynamic response of fiberoptic intubation than the propofol group. Fiberoptic intubation was found to be easier with dexmedetomidine premedication along with sedative infusion of propofol with complete amnesia of the procedure, hemodynamic stability and preservation of patent airway

20.
Indian J Dermatol Venereol Leprol ; 2011 May-Jun; 77(3): 403
Artículo en Inglés | IMSEAR | ID: sea-140872
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