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An infant was admitted with suspected postinfectious malabsorption with watery diarrhoea, fever and failure to thrive. She had dehydration, acute kidney injury and metabolic acidosis, which were corrected with intravenous fluids and managed with empiric antibiotics and prophylactic antifungals. She also developed Escherichia coli sepsis, meningitis and Candida skin infections during hospitalisation, which were treated according to the culture reports. Intrauterine growth restriction, woolly hair and a broad nasal bridge with chronic refractory diarrhoea prompted genetic testing to rule out syndromic diarrhoea. Whole-exome sequencing revealed a pathogenic compound heterozygous mutation causing trichohepatoenteric syndrome. She succumbed to severe infections at 80 days of life. The condition is rare, and no established guidelines or specific treatments exist; the focus is to promote optimal growth through parenteral nutrition, elemental formula and infection control. Early suspicion and molecular genetic testing can help reduce the time to diagnosis, treatment and genetic counselling.
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Diarreia Infantil , Fácies , Doenças do Cabelo , Lactente , Feminino , Humanos , Retardo do Crescimento Fetal/genética , Diarreia/diagnóstico , Diarreia Infantil/diagnóstico , Diarreia Infantil/terapia , Diarreia Infantil/genética , Doenças do Cabelo/genéticaAssuntos
Encefalopatias , Humanos , Recém-Nascido , Encefalopatias/diagnóstico , Encefalopatias/terapiaRESUMO
OBJECTIVE: Asthma is a heterogeneous disease with varying clinical presentations, severity and ability to achieve asthma control. The present study aimed to characterize clinical phenotypes of asthma in an Indian cohort of subjects using a cluster analysis approach. METHODS: Patients with confirmed asthma (N = 100) and at least 6-months of follow-up data, identified by retrospective chart review, were included in this study. Demographics, age at disease onset, disease duration, body mass index, serial spirometry and allergen sensitization were assessed. Asthma control was assessed prospectively using Global Initiative for Asthma and Asthma Control Test. R version 3.4.3 was used for statistical analysis. Ward's minimum-variance hierarchical clustering method was performed using an agglomerative (bottom-up) approach. To compare differences between clusters, analysis of variance using Kruskal-Wallis test (continuous variables) and chi-square test (categorical variables) was used. RESULTS: Cluster analysis of 100 treatment-naive patients with asthma identified four clusters. Cluster 1, (N = 40), childhood onset of disease, normal body weight, equal gender distribution and achieved normal lung function. Cluster 2 (N = 16) included adolescent disease-onset, obese, majority males and had poor attainment of maximum lung functions. Cluster 3 (N = 20) were older, late-onset of disease, obese, majority male and had poor attainment of maximum lung function. Cluster 4 (N = 24) had adult-onset of disease, obese, predominantly female and achieved normal lung function. CONCLUSIONS: In an Indian cohort of well-characterized patients with asthma, cluster analysis identified four distinct clinical phenotypes of asthma, two of which had poor attainment of maximum lung functions.
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Asma/genética , Asma/fisiopatologia , Pulmão/fisiopatologia , Fenótipo , Adulto , Análise por Conglomerados , Feminino , Humanos , Índia , Masculino , Estudos Retrospectivos , Adulto JovemRESUMO
We report a case of a 28-year-old male who presented in the emergency room with a history of two episodes of syncope in the last 3 days at home. ECG was done in the emergency room which was suggestive of complete heart block. The patient had a history of pain on and off in the right upper quadrant region (RUQ) after having a meal. Ultrasonography of the abdomen was advised which revealed acute calculous cholecystitis. A temporary pacemaker was inserted and an emergency laparoscopic cholecystectomy was planned. The patient recovered postoperatively and converted back to sinus rhythm. Considering the patient's age, normal cardiac workup, and his complete heart block disappeared after the removal of his gallbladder, it was postulated that this patient had a case of cardio-biliary reflex (Cope's sign).
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Caesarean section performed in the second stage of labour has many implications for maternal and neonatal morbidity as well as for subsequent pregnancies. A study was conducted to analyse the indications and maternal and neonatal prognosis of caesarean sections performed in the second stage of labour. Four percentage of caesarean sections were performed in the second stage of labour; 60% of these were referred cases. Most common indication was non-descent of head. Forty-three percentage of newborns were admitted in the neonatal intensive care unit. Hospital stay was prolonged which further increased the hospital burden. A proper judgement is required by the obstetrician to take decision for instrumental delivery or caesarean section. Early diagnosis and timely referral with a good infrastructure would help to decrease the maternal and neonatal morbidity.
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BACKGROUND: Left ventricular remodeling (LVR) after ST-elevation myocardial infarction (STEMI) harbingers poor prognosis. Three-dimensional echocardiography (3DE) is more accurate than 2 D echo for the assessment of left ventricle (LV) shape. We assessed LV geometry with 3D ECHO 6 months after STEMI in patients who had primary angioplasty. MATERIALS AND METHODS: In this prospective study, morphological and functional analysis of LV with 3D ECHO (volumes, LVEF, 3D sphericity index [SI]) was assessed up to 7 days and 6 months in 42 STEMI patients. The LVR was considered for increase >15% of the end diastolic volume of the LV (LVEDV) 6 months after the STEMI, compared to the LVEDV up to 7 days of it. RESULTS: Sixteen (38%) patients had LVR. 3D Echocardiographic measurements up to 7 days after the acute myocardial infarction (AMI) 1-LVEDV in ventricular remodeling group was 99.8 ± 19.1 ml and in no ventricular remodeling group was 87 ± 18.2 mL (P = 0.037); 2-LVEF was 0.48 ± 0.01 and 51 ± 0.02 (P <.001); 3D-SI was 0.41 ± 0.05 and 31 ± 0.05 (P < 0.001) II-after 6 months: 1-LVEDV in remodeling group was 114.2 ± 19.5 mL and no remodeling group was 94.2 ± 18.6 (P = 0.002); 2-LVEF was 0.58 ± 0.01 and 59 ± .01 (P = 0.003); 3D-sphericity was 0.35 ± 0.05 and 28 ± .05 (P < 0.001). CONCLUSION: LVR was observed in 38% of the patients 6 months after AMI. The 3D SI has been associated with occurrence of LVR and can differentiate patients with and without subsequent development of LVR accurately and early on its basis.
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INTRODUCTION: Healthcare providers are an important link with the general public to impart knowledge regarding contraception. They are an important source of providing information regarding different methods of contraception, their proper use and removing the myths from the couple's mind. However, their own attitude and practice of contraception are often lacking. OBJECTIVE: This study was conducted to assess the attitude and practice of contraception over the last 1 year of nurses in a tertiary care hospital in Jaipur. METHODS: The study was conducted on 410 nurses in a tertiary care hospital. All were given a questionnaire that was duly filled by them, and the data obtained was analysed. RESULTS: All were aware of at least one family planning method. Only 84% knew that contraceptives could space the pregnancy. Very few had correct knowledge about the fertile period or lactational amenorrhoea. Few were aware of emergency contraception and its proper implication (6.83%) The commonest was the barrier method (70%) followed by natural method (41.46%). There was shifting from natural method to barrier method and OC pills for few cycles. CONCLUSION: Health workers have knowledge regarding contraception yet fail to use it regularly. Proper attitude and practice are essential to prevent unintended pregnancies and prevention of STDs. Their use will enhance counselling skills for general population.
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AIM: This study aims to present the data of mandibular fracture among children in the age group of 0-12 years treated in a district trauma center in India. STUDY DESIGN: Sixty-two children younger than 12 years treated for mandibular fractures over two-and-a-half-year period were studied by age, gender, anatomic site, etiology, socioeconomic status, residing area, interval from trauma to reporting, and treatment performed. The cases were divided into three age groups, and the records of the patients were analyzed. RESULTS: The male to female ratio was 1.58:1. Common fall and fall from bike together was a cause for injury in 50% (31 patients), of total patients. Condylar fractures occurred in 25 patients (40.3%). Multiple fractures were seen in 13% of the patients. In 47 (75.8%) patients, associated injuries other than the mandibular fractures were also present. Most patients with mandibular fractures were treated by closed reduction (36 patients, 58%). Conservative treatment and open reduction were done in 18 (29%) and 8 (13%) patients, respectively. CONCLUSION: In addition to factors such as age, gender, etiology, anatomic site, and treatment of mandibular fracture, this study also reported statistics regarding other factors such as residing area, socioeconomic status, and interval from trauma to reporting in Indian patients. It is hoped that the data presented here will be valuable to the government agencies and healthcare professionals for planning treatment, recommending preventive measures and encouraging research in this area.
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Fraturas Mandibulares/epidemiologia , Fraturas Mandibulares/etiologia , Fraturas Mandibulares/terapia , Criança , Pré-Escolar , Feminino , Humanos , Índia/epidemiologia , Lactente , Masculino , Fatores de Risco , Centros de TraumatologiaRESUMO
AIM: Traumatic dental injuries frequently occur in society and may occur at home. The ultimate prognosis of an avulsed tooth occurring in a child may depend on the parents' knowledge of appropriate emergency measures. This study is aimed at evaluating the awareness level of a sample of Indian (Rohtak, Haryana) parents in the management of dental trauma. MATERIALS AND METHODS: A total of 1500 parents were surveyed using a self-administered structured questionnaire. The questionnaire was divided into three parts. The tabulated data were statistically analyzed using the Chi-square test. RESULT: This study indicated a low level of knowledge regarding tooth avulsion and replantation procedures to be followed in emergency. The residing area and age of parent did not affect the knowledge and awareness of parents. Moreover, well-educated parents also had very little or no information about dental trauma first-aid. The lack of significance in correct answers between those with and without such experience indicated that past experience did not seem to have increase the knowledge of the correct emergency procedures. Very little or no information about tooth avulsion and replantation had been given to most of them. CONCLUSION: Dental injury prevention and management should be recognized as a major public health issue and adequate resources to be allocated for research in this area. Educational programs to improve the knowledge and awareness among the parents have to be implemented.
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Extracted teeth can be bonded directly to adjacent teeth utilizing a prefabricated composite resin framework reinforced with polyethylene fiber as a noninvasive long-term provisional tooth replacement. This immediate provisional restoration allow for exact repositioning of the coronal part of the extracted tooth in its original intraoral three-dimensional position and thus relieves the apprehension of the patient caused by the sudden loss of an anterior tooth.