Study of incidence and prevalence of hypokalemic periodic paralysis

Background: Hypokalemic periodic paralysis (HPP) is a rare autosomal dominant channelopathy characterised by muscle weakness or paralysis when there is a fall of potassium level in the blood. In individuals with mutation, attack begins during adolescents and most commonly occurs after sleep on awakening, rest after strenuous exercise, high carbohydrate diet and meal with high sodium content. This study was conducted to analyse the age of incidence and prevalence of HPP with various clinical presentations, diagnosis and its effective treatment.Methods: A retrospective analysis of 50 patients of Hypokalemic periodic paralysis was analysed in tertiary care centre “Rajendra institute of medical science” Ranchi, Jharkhand, India, with reference to its clinical presentation, age of incidence and prevalence with laboratory parameters and treatment outcomes.Results: Incidence of attack is more common in men between 26-35 years of age. Sudden onset of flaccid quadriparesis was the most common presentation with history of high carbohydrate diet on the background of strenuous work during summer season. Around 60% had similar history of attacks in the past and most of the patients had serum potassium levels between 2.1-3.0mEq/L. Electrocardiography (ECG) abnormalities associated with hypokalemia had been observed in 90% of patients, and also significant clinical, biochemical changes have been observed as well.Conclusions: Early diagnosis not only helps in definitive management with potassium replacement, but also prevents patient going for life threatening respiratory failure.  Patients recover completely without any clinical sequelae. Therefore, it is imperative for physicians, particularly those working in acute care settings, to be aware of this condition. Further management depends on the cause, frequency of attacks, severity of symptoms and the duration of the illness.

Three-year clinical application practice report of lung ultrasound in our NICU / 中国小儿急救医学

Objective To retrospectively analyze the application of lung ultrasound in neonatal de-partment of our hospital in the past three years,and summed up the clinical diagnosis and treatment changes brought by it. Methods The clinical data of infants accepted the bedside lung ultrasound examination from May to December 2016(early carry out stage),from January to December 2017(adaptation stage),from Jan-uary to August 2018(normal conduct stage) in our NICU of Jingzhou Central Hospital were collected. The clinical data of 878 infants with different stages of application were compared and analyzed. Results In 878 children,1 225 of lung ultrasound were performed,64. 1% of patients had pulmonary disease,and 35. 9% had no lung disease. There were 67 cases of neonatal respiratory distress syndrome,278 cases of wet lung,259 ca-ses of pneumonia,64 cases of meconium aspiration syndrome,72 cases of acute respiratory distress syn-drome,63 cases of atelectasis and 14 cases of pleural effusion. A total of 1 122 times of lung X-ray examina-tion were performed in 878 children. The number of X-ray examinations per capita decreased from 2. 48 times in 2016 to 1. 40 times in 2017 and 0. 84 times in 2018. A total of 32 times of pulmonary CT examination were performed. The number of lung CT inspection decreased from 0. 060 times in 2016 to 0. 038 times in 2017 and 0. 029 times in 2018. Lung ultrasound was convenient for dynamic observation,and could be used to de-termine the improvement,aggravation or new pulmonary lesions. Conclusion Lung ultrasound is accurate in the diagnosis of lung disease in NICU,especially for children with long hospital stay,repeated illness and dif-ficult to withdraw. It is easy to carry out in clinic,at the bedside,which can reduce the times of chest X-ray and CT per capita examination. Lung ultrasound is an effective and feasible method for NICU to diagnose lung diseases and it is worth promoting.

Methylenetetrahydrofolate reductase polymorphism is not risk factor for Down syndrome in North India.

BACKGROUND: Down syndrome (DS) is the most common cause of mental retardation of genetic etiology with the prevalence rate of 1/700 to 1/1000 live births worldwide. Several polymorphisms in folate/homocysteine metabolism pathways genes have been reported as a risk factor in women for bearing DS child, but very few studies investigated these polymorphisms in DS cases whether there are a risk factor for being DS or not. OBJECTIVE: We have investigated the association of methylenetetrahydrofolate reductase (MTHFR) with the occurrence of DS in Indian population. MTHFR is one of the key regulatory enzymes involved in the metabolic pathway of homocysteine responsible for the reduction of methyltetrahydrofolate. A total of 32 DS cases and 64 age, sex matched controls were genotyped for MTHFR C677T polymorphism by polymerase chain reaction‑restriction fragment length polymorphism. RESULTS: The observed genotype frequencies were CC = 0.81; CT = 0.17 and TT = 0.02 in controls and CC = 0.81 and CT = 0.19 in DS cases. Frequency of T allele in DS and controls were 0.09 and 0.1, respectively. Significant difference in the distribution of mutant 677T allele was not observed between DS cases and controls (odds ratio = 0.915; 95% confidence intervals: 0.331-2.53; P = 0.864). CONCLUSION: Results of this study indicate that MTHFR C677T polymorphism is not risk factor for DS.

Analysis of methionine synthase reductase polymorphism (A66G) in Indian Muslim population.

BACKGROUND AND OBJECTIVES: Methionine synthase reductase (MTRR) is a vital enzyme of homocysteine/methionine metabolic pathway and is required for the conversion of inactive form of methionine synthase (MTR) to its active form. A clinically important allelic variant of MTRR A66G, with less enzymatic activity is reported with worldwide prevalence rate of ~ 30%. The present study was designed to determine the frequency of MTRR A66G polymorphism in rural Sunni Muslim population of Eastern Uttar Pradesh. MATERIALS AND METHODS: Total 56 subjects were analyzed for MTRR A66G polymorphism. A66G mutation analysis was carried out according to the polymerase chain reaction-restriction fragment length polymorphism method of Wilson et al. [1] amplification with MTRR specific primers followed by amplicon digestion with NdeI enzyme was used for the identification of different MTRR genotypes in subjects. RESULTS AND DISCUSSION: The AA genotype was found in 5 subjects, AG in 23 subjects, and GG genotype in 28 subjects. Genotype frequencies of AA, AG, and GG were 0.089, 0.41, and 0.5 respectively. The allele frequency of A allele was found to be 0.298 and G allele was 0.705. CONCLUSION: It is evident from the present study that the percentage of homozygous genotype GG and frequency of G allele is high in the target Muslim population.

MTRR A66G polymorphism among two caste groups of Uttar Pradesh (India).

Objective: This study was aimed to evaluate the Methionine synthase reductase (MTRR) A66G mutation in Yadav and Scheduled Caste (SC) population of Uttar Pradesh. Materials and Methods: Blood samples were collected from 100 subjects after taking informed written consent and PCR-RFLP method was used for the analysis of A66G mutation. After NdeI digestion, 66-bp amplicon of normal allele was cut into 22- and 44-bp long fragments, whereas mutant G allele was not digested. Results: Frequencies of genotypes in Yadav population AA, AG, and GG were 12%, 60%, and 28%, respectively, and in SC population, genotypic frequencies were 12% (AA), 52% (AG), and 36% (GG). Conclusion: MTRR gene A66G mutation is found to be polymorphic in both the target populations with G allele frequencies being 0.58 for Yadav and 0.62 for Scheduled Caste.

Prevalence of methylenetetrahydrofolate reductase C677T polymorphism in eastern Uttar Pradesh.

AIM: This study was aimed to evaluate the 5, 10-methylenetetrahydrofolate reductase (MTHFR) C677T mutation in eastern Uttar Pradesh population. MATERIALS AND METHODS: Polymerase chain reaction (PCR) using specific primers followed by amplicon digestion by Hinf I restriction enzyme was used for MTHFR C677T polymorphism analysis. Total 250 subjects were analyzed. RESULTS: The CC genotype was found in 192 subjects, followed by CT in 56 subjects and TT in 2 subject. Genotype frequencies of CC, CT and TT were 0.768, 0.224 and 0.008, respectively. The frequency of C allele was found to be 0.88 and that of T allele was 0.12. CONCLUSION: It is evident from the results of the present study that the percentage of homozygous genotype (CC) is highest in the target population.

Methylenetetrahydrofolate reductase polymorphism (c677t) in muslim population of eastern uttar pradesh, India.

Objective : The aim of the present study was to investigate the distribution of methylenetetrahydrofolate reductase (C677T) polymorphism in the Muslim population of eastern Uttar Pradesh. Materials and Methods: Total 56 subjects were analysed for MTHFR C677T polymorphism. C677T mutation analysis was done according to the PCR-RFLP (Polymerase chain reaction-Restriction fragment length polymorphism) method. Results : The frequencies of three genotypes CC, CT, and TT were 0.857, 0.125, and 0.07, respectively, and the frequency of mutated T allele was found to be 0.080. Conclusion : Genotypes and allele frequencies revealed the low prevalence of MTHFR C677T polymorphism in Indian Muslims. C677T mutation has been suggested to be positively associated with the risk of several congenital and multifactorial disorders. The low frequency of T/T genotype in the Muslim population may be due to malnutrition in pregnant women, because of insufficient intake of folate is considered to be a survival disadvantage for foetuses with T/T genotype.