Assessment of the degree of awareness among post-graduate medical physicians and Pharmacists about look-alike, sound-alike drug and potential medication errors

Background: With thousands of drugs currently in the market, the potential for medication errors due to confusing drug names amongst practising physicians, pharmacists and patients is significant. The existence of confusing drug names is one of the most common causes of medication error. There are many look-alikes, sound-alike (LASA) combinations that could potentially result in medication errors. There is insufficient data about medication errors due to LASA. Hence, we conducted the present study to determine the degree of awareness regarding LASA drugs among post graduate medical physicians and Pharmacists.Methods: This study was a cross-sectional, questionnaire-based survey, conducted among 137 year post graduate medical residents of a tertiary care teaching hospital and 121 local pharmacists in an urban metropolitan Indian city.Results: There were 34% resident doctors and 17% pharmacists were aware of concept of LASA drugs. Only 46% resident doctors and 22% pharmacists had knowledge about the full form of LASA. Among resident doctors, 39% came across prescription errors due to LASA drugs. Only 69% of the pharmacists agreed that they consulted their doctors when they faced problems due to prescription errors due to similar looking and similar sounding drugs.Conclusions: Look-Alike, Sound-Alike (LASA) drugs are common source of medication errors. Our study suggests that there is lack of awareness about LASA drugs amongst resident doctors and pharmacists, which may contribute to occurrence of medication errors. Therefore, combined efforts by prescribers, pharmacists, organizations, manufacturers and patients is required to overcome medication errors due to LASA drugs

A QUESTIONNAIRE BASED SURVEY TO ASSESS THE KNOWLEDGE, ATTITUDE AND PRACTICES OF AYURVEDIC PRACTITIONERS TOWARDS MASANUMASIK KASHAYAS

For a healthy pregnancy and delivery of a normal child, different group of medicines taken for each month of pregnancy is described in Ayurveda as Masanumasik Kashayas (monthly antenatal decoctions). Objectives: To assess the knowledge, attitude and practice of Ayurvedic practitioners regarding Masanumasik Kashayas. Methodology: Following ethical approval, a cross-sectional descriptive survey was conducted among Ayurvedic physicians from Mumbai region. Results: Of 130 questionnaires distributed, 120 physicians responded (92%). Although all the physicians were aware that Masanumasik Kashayasare described in the Samhitas, only 60% knew the number of Kashayas (decoctions). 85% knew the rationale for prescribing these Kashaya s(decoctions) and 93% agreed that these Kashayas (decoctions) improved pregnancy outcome. However, in clinical practice, 45% participants said that they prescribed Kashayas (decoctions) only in patients with bad obstetric history while 52.5% prescribed in regular ante-natal care. 83% preferred Vati (tablet) form rather than Kashaya (decoction) as patient compliance was better. All physicians who prescribed said that there were no adverse complaints and the pregnancy outcome was good. Conclusion: The study thus showed that all Ayurvedic practitioners were still well versed with Masanumasik Kashayas and prescribed these kashayas (decoctions) for a good pregnancy outcome in clinical practice with some modifications like usage of only 9 Kashayas (decoctions) and Vati form (tablet)

Biallelic P4HTM variants associated with HIDEA syndrome and mitochondrial respiratory chain complex I deficiency

We report a patient with profound congenital hypotonia, central hypoventilation, poor visual behaviour with retinal hypopigmentation, and significantly decreased mitochondrial respiratory chain complex I activity in muscle, who died at 7 months of age having made minimal developmental progress. Biallelic predicted truncating P4HTM variants were identified following trio whole-genome sequencing, consistent with a diagnosis of hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy and eye abnormalities (HIDEA) syndrome. Very few patients with HIDEA syndrome have been reported previously and mitochondrial abnormalities were observed in three of four previous cases who had a muscle biopsy, suggesting the possibility that HIDEA syndrome represents a primary mitochondrial disorder. P4HTM encodes a transmembrane prolyl 4-hydroxylase with putative targets including hypoxia inducible factors, RNA polymerase II and activating transcription factor 4, which has been implicated in the integrated stress response observed in cell and animal models of mitochondrial disease, and may explain the mitochondrial dysfunction observed in HIDEA syndrome

Acetazolamide can improve symptoms and signs in ion channel-related congenital myopathy

Sarcolemmal voltage-gated sodium and calcium ion channels are essential for generating action potentials and excitation contraction coupling required for muscle contraction. Autosomal dominant sodium and calcium ion channel gene disorders cause episodic symptoms of periodic paralysis (PP) and myotonia.1 Acetazolamide treatment improves these symptoms.2 Recently, recessive congenital myopathies due to compound heterozygous or homozygous ion channel gene mutations have been described with fixed muscle weakness and disability.3 4 In case series we previously reported, two individuals with ion channel-related congenital myopathy had additional discrete episodic or fluctuant weakness causing added morbidity.3 4 Here, we delineate the long-term benefit of treatment with acetazolamide for these individuals and discuss the implications for genetic diagnosis and management of future cases

Novel missense variants in the RNF213 gene from a European family with Moyamoya disease

In this report, we present a European family with six individuals affected with Moyamoya disease (MMD). We detected two novel missense variants in the Moyamoya susceptibility gene RNF213, c.12553A>G (p.(Lys4185Glu)) and c.12562G>A (p.(Ala4188Thr)). Cosegregation of the variants with MMD, as well as a previous report of a variant affecting the same amino acid residue in unrelated MMD patients, supports the role of RNF213 in the pathogenesis of MM

Skeletal Muscle Channelopathies: Rare Disorders with Common Pediatric Symptoms

Objective To ascertain the presenting symptoms of children with skeletal muscle channelopathies to promote early diagnosis and treatment. Study design Retrospective case review of 38 children with a skeletal muscle channelopathy attending the specialist pediatric neuromuscular service at Great Ormond Street Hospital over a 15-year period. Results Gait disorder and leg cramps are a frequent presentation of myotonic disorders (19 of 29). Strabismus or extraocular myotonia (9 of 19) and respiratory and/or bulbar symptoms (11 of 19) are common among those with sodium channelopathy. Neonatal hypotonia was observed in periodic paralysis. Scoliosis and/or contractures were demonstrated in 6 of 38 children. School attendance or ability to engage fully in all activities was often limited (25 of 38). Conclusions Children with skeletal muscle channelopathies frequently display symptoms that are uncommon in adult disease. Any child presenting with abnormal gait, leg cramps, or strabismus, especially if intermittent, should prompt examination for myotonia. Those with sodium channel disease should be monitored for respiratory or bulbar complications. Neonatal hypotonia can herald periodic paralysis. Early diagnosis is essential for children to reach their full educational potential

Cardiorespiratory Progression Over 5 Years and Role of Corticosteroids in Duchenne Muscular Dystrophy: A Single-Site Retrospective Longitudinal Study

Background: Duchenne muscular dystrophy (DMD) boys treated with corticosteroids (CS) have prolonged survival and respiratory function when compared to CS-naïve. /\ud Research question: The differential impact of frequently used corticosteroids and their regimens on long-term (>5 years) cardiorespiratory progression in DMD children is unknown. / Study Design and Methods: Retrospective longitudinal study including DMD children followed at Dubowitz Neuromuscular Centre (Great Ormond Street Hospital London), May 2000-June 2017. Patients enrolled in any interventional clinical trials were excluded. We collected patients’ anthropometrics, respiratory (forced vital capacity, FVC% predicted and absolute FVC, non-invasive ventilation requirement, NIV) and cardiac (left ventricular shortening function, LVFS%) function. CS-naïve patients had never received CS. CS-treated took either deflazacort or prednisolone, daily or intermittently (10 days on/10 days off) for >1 month. Average longitudinal models were fitted for yearly respiratory (FVC%P) and cardiac (LVFS%) progression. A time-to-event analysis to FVC%P<50%, NIV start and cardiomyopathy (LVFS<28%) was performed in CS-treated (daily and intermittent) vs CS-naïve patients. / Results: There were 270 patients, mean age at baseline 6.2 (±2.3) years. Median follow-up 5.6 (± 3.5) years. At baseline, 263 were ambulant. Sixty-six were CS-daily, 182 CS-intermittent >60% treatment, 22 CS-naïve. Yearly FVC%P declined similarly from 9 years (5.9% and 6.9%/year, p=0.27) in CS-daily and CS-intermittent. CS-daily declined from a higher FVC%P than CS-intermittent (p2 years later than CS-treated. LVFS% declined by 0.53%/year in CS-treated irrespective of CS regimen, significantly slower (p<0.01) than CS-naïve progressing by 1.17%/year. Age at cardiomyopathy was 16.6 in CS-treated (p<0.05) irrespective of regimen and 13.9 years in CS-naïve. / Interpretation: CS irrespective of their regimen significantly improved respiratory function and delayed NIV requirement and cardiomyopathy

Role of Fluorescent In Situ Hybridization, Cholangioscopic Biopsies, and EUS‐FNA in the Evaluation of Biliary Strictures

Background and Aims: Our goal was to compare the diagnostic accuracy of FISH in the detection of malignancy compared with other standard diagnostic modalities, including brush cytology and biopsy specimens over a 10-year period of prospective data collection. Methods: We conducted a review of all consecutive biliary strictures evaluated between 2006 and 2016. Patients with a final pathologic diagnosis or conclusive follow-up were included. We evaluated the performance of FISH polysomy (CEP 3, 7, and 17) and 9p21 deletion as well as cholangioscopic biopsy (CBx) and EUS-FNA. Statistical analysis was performed with the Mann–Whitney U and Fisher’s exact tests. Results: Of 382 patients with indeterminate strictures, 281 met inclusion criteria. Forty-nine percent were malignant. Cytology, FISH polysomy, and FISH polysomy/9p21 showed a specificity of 99.3%. FISH polysomy/9p21 as a single modality was the most sensitive at 56% (p < 0.001). The sensitivity of FISH polysomy/9p21 and cytology was significantly higher than cytology alone at 63 versus 35% (p < 0.05). EUS-FNA for distal strictures and CBx for proximal strictures increased sensitivity from 33 to 93% (p < 0.001) and 48–76% (p = 0.05) in cytology-negative strictures. Conclusions: The high specificity of FISH polysomy/9p21 suggests that a positive result is sufficient for diagnosing malignancy in indeterminate strictures. The significantly higher sensitivity of FISH polysomy/9p21 compared to cytology supports the use of FISH in all non-diagnostic cases. Although both EUS-FNA and CBx were complimentary, our results suggest that distal strictures should be evaluated by EUS initially. Proximal strictures may be evaluated by FISH first and then by CBx if inconclusive

Clinical spectrum, treatment and outcome of children with suspected diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy

Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a treatable chronic disorder of the peripheral nervous system. We retrospectively studied 30 children with a suspected diagnosis of CIDP. The diagnosis of CIDP was compared against the childhood CIDP revised diagnostic criteria 2000. Of the 30 children, five did not meet the criteria and four others met the criteria but subsequently had alternative diagnosis, leaving a total of 21 children (12 male) with CIDP as the final diagnosis. Thirteen children presented with chronic symptom-onset (>8 weeks). The majority presented with gait difficulties or pain in legs (n = 16). 12 children (57%) met the neurophysiological criteria and 18/19 (94%) met the cerebrospinal fluid criteria. Nerve biopsy was suggestive in 3/9 (33%), with magnetic resonance imaging supportive in 9/20 (45%). Twenty-one children received immuno-modulatory treatment at first presentation, of which majority (n = 19, 90%) received IVIG (immunoglobulin) monotherapy with 13 (68%) showing a good response. 8 children received second line treatment with either IVIG or steroids or plasmapharesis (PE) and 4 needed other immune-modulatory agents. During a median follow-up of 3.6 years, 9 (43%) had a monophasic course and 12 (57%) had a relapsing–remitting course. At last paediatric follow up 7 (33%) were off all treatment, 9 (43%) left with no or minimal residual disability and 6 (28%) children were walking with assistance (n = 3) or were non-ambulant (n = 3). Our review highlights challenges in the diagnosis and management of paediatric CIDP. It also confirms that certain metabolic disorders may mimic CIDP