ARDS with septic shock managed successfully using a multidisciplinary approach: A case report

Acute respiratory distress syndrome (ARDS) is an inflammatory process in the lungs that results in hypoxemia and decreased lung compliance. Invasive mechanical ventilation and prone positioning have proven benefits in the management of patients with severe ARDS. Post-extubation rehabilitation programs are equally important for the recovery of these patients. We are reporting the case of a 30-year-old male with severe ARDS where lung protective ventilation, timely intubation, early prone positioning, multidisciplinary communication, and post-discharge follow-up with teleconsultation were used under expert supervision in the successful management of the case

Marketing-strategies-of-dabur-amidst-shift-in-consumer-behavior-towards-ayurvedic-products-during-covid19

Covid 19 pandemic has crucially affected the economy, health and other spheres of life. This unprecedented pandemic has severely affected consumer attitudes, behaviorism, and purchasing habits.The rapid shifts in consumer behavior patterns have major implications on consumer goods industries. Now, most of the purchases are centered on basic needs specially health and nutrition for general well-being. In present situation, consumers are fascinated towards health and immunity boosters. Personal health and hygiene has become a top priority of the people.People are changing their buying preferences based on global circumstances, the product categories being purchased are also changing. The market is also flooded with immunity boosters especially Ayurvedic products, hygiene and sanitizing solutions.. The most important change that this pandemic has brought in the consumer behavior is that they are now moving from reactive to proactive mindsets and because of Ayurveda there will surely a sales boost in those kind of products as consumer focus and priorities shifting towards inner health and immunity. Major players in the Indian market include Dabur India Limited, Himalaya Drug Company Private Limited, Patanjali Ayurved Limited, Shree Baidyanath Ayurved Bhawan Private Limited, Charak Pharma Private Limited, Emami Limited, Vicco laboratories. These key players are building Ayurveda as a brand through their innovative marketing strategies and giving a boost to the Ayurveda sector. Before Covid, the situation goes the same for the companies but this pandemic makes a change in the concept of consumerism. Consumerism is also looking for new aspects as only dumping and increasing consumption of products is not the way for the future. Now consumers are more focused on saving money, saving health and saving for the future.One more new concept is emerging with it is adjusting to a New Normal which means a new way of living and going about our lives, work and interactions with other people. The factors that influence brand decisions are also changing as a "buy local" trend accelerates. Vocal for a local tagline has also created an emphasis on local products rather than well- established brands.Digital commerce has also seen a boost as new consumers migrate online for grocery shopping – a rise that is likely to be sustained post-outbreak. This paper focuses on the shift in buying behavior of consumer towards Ayurvedic products and changing marketing strategies of Ayurvedic companies specially Dabur in India in alignment with consumer preferences

Study of Thyroid Functions in critically ill Patients admitted in Medical Intensive Care Unit and its Correlation with Critical Care Scoring Acute Physiology and Chronic Health Evaluation III

Background: Thyroid hormones have a crucial role in adapting the metabolic functions during stress and critical illness. Patients who are critically ill may have profound changes in thyroid hormone metabolism. Non-thyroidal Illness Syndrome (NTIS) is one among them, in which there is marked abnormality seen in the thyroid hormone levels. Hence this study is to understand the alterations of the thyroid function tests (TFTs) encountered in critically ill patients admitted in medical intensive care unit (MICU) without primary thyroid disease and to correlate with the severity of Acute Physiology and Chronic Health Evaluation (APACHE III) scoring. Methods: The study was conducted on 100 critically ill patients with no previous thyroid disorders, admitted in MICU in the Department of General Medicine in a tertiary care hospital between September 2017 and August 2019 who fulfilled the inclusion and exclusion criteria. Results: Out of 100 critically ill patients the abnormal thyroid function prevalence was seen in 78% patients. The most common abnormality seen in our study was low total triiodothyronine (TT3) (61%) followed by low free triiodothyronine (FT3) (36%), low total thyroxine (TT4) (29%), high thyroid-stimulating hormone (TSH) (18%), and low free thyroxine (FT4) (12%). Low TT3, TT4, and FT3 values had a significant correlation with increasing critical severity score of APACHE III with a p value which was statistically significant (p < 0.05). Conclusions: With increase in severity of critical illness assessed by APACHE III, TFT, that is, TT3, TT4, and FT3 levels were decreasing, suggestive of increasing non-thyroidal illness in critically ill patients.

Diagnosis and Management of Global Development Delay: Consensus Guidelines of Growth, Development and Behavioral Pediatrics Chapter, Neurology Chapter and Neurodevelopment Pediatrics Chapter of the Indian Academy of Pediatrics

Justification: Global developmental delay (GDD) is a relatively common neurodevelopmental disorder; however, paucity of published literature and absence of uniform guidelines increases the complexity of clinical management of this condition. Hence, there is a need of practical guidelines for the pediatrician on the diagnosis and management of GDD, summarizing the available evidence, and filling in the gaps in existing knowledge and practices. Process: Seven subcommittees of subject experts comprising of writing and expert group from among members of Indian Academy of Pediatrics (IAP) and its chapters of Neurology, Neurodevelopment Pediatrics and Growth Development and Behavioral Pediatrics were constituted, who reviewed literature, developed key questions and prepared the first draft on guidelines after multiple rounds of discussion. The guidelines were then discussed by the whole group in an online meeting. The points of contention were discussed and a general consensus was arrived at, after which final guidelines were drafted by the writing group and approved by all contributors. The guidelines were then approved by the Executive Board of IAP. Guidelines: GDD is defined as significant delay (at least 2 standard deviations below the mean with standardized developmental tests) in at least two developmental domains in children under 5 years of age; however, children whose delay can be explained primarily by motor issues or severe uncorrected visual/ hearing impairment are excluded. Severity of GDD can be classified as mild, moderate, severe and profound on adaptive functioning. For all children, in addition to routine surveillance, developmental screening using standardized tools should be done at 9-12 months,18-24 months, and at school entry; whereas, for high risk infants, it should be done 6-monthly till 24 months and yearly till 5 years of age; in addition to once at school entry. All children, especially those diagnosed with GDD, should be screened for ASD at 18-24 months, and if screen negative, again at 3 years of age. It is recommended that investigations should always follow a careful history and examination to plan targeted testing and, vision and hearing screening should be done in all cases prior to standardized tests of development. Neuroimaging, preferably magnetic resonance imaging of the brain, should be obtained when specific clinical indicators are present. Biochemical and metabolic investigations should be targeted towards identifying treatable conditions and genetic tests are recommended in presence of clinical suspicion of a genetic syndrome and/or in the absence of a clear etiology. Multidisciplinary intervention should be initiated soon after the delay is recognized even before a formal diagnosis is made, and early intervention for high risk infants should start in the nursery with developmentally supportive care. Detailed structured counselling of family regarding the diagnosis, etiology, comorbidities, investigations, management, prognosis and follow-up is recommended. Regular targeted follow-up should be done, preferably in consultation with a team of experts led by a developmental pediatrician/ pediatric neurologist.

Role of Liners in Restorative Dentistry.

Tooth has two main organs- pulp and dentin which remain closely integrated. They depend on each other both functionally and anatomically, throughout the life of tooth. Protection of these tissues is important from trauma during cavity preparation or tooth preparation, from caries, from mechanical forces, from chemicals produced by bacteria and from galvanic shock and thermal injury. The main aim of the operative dentistry is to protect this tissue and preserve tooth vitality.(1) The purpose of a restoration is to replace missing tooth structure and provide the pulp adequate strength and protection from external insults. Sometimes, the restorations and \ or the restorative material is incapable of providing this property; hence, an auxiliary material such as liner and base or sub-base is required, which can fulfil this function. The material used to protect this tissue is called pulp protecting material or pulp capping material. For many decades clinicians have been using liners and bases under restorations. The type of auxiliary material to be used depends upon the minimum dentinal thickness which is left between the surface of the cavity and pulp. This is known as remaining dentin thickness (RDT). Dentin has excellent buffering capacity to neutralize the effects of cariogenic acids, and insulates the pulp from temperature increases during cavity percolation. The single most important criterion for protecting pulp is remaining dentinal thickness which is dependent upon the depth of cavity preparation.(2)

Functions of Root Canal Sealers- A Review.

Endodontic therapy is a treatment for the diseased pulp of a tooth. It will result in the removal of infection and the preservation from further microbial invasion. The principle constituents of an endodontic filling are- a core material “gutta percha” and “endodontic sealers”. All the current obturating techniques make use of the sealer to augment the seal endodontic filling material. It fills the space between canals. Endodontic sealer fills the space between the material as well as root dentin. Different types of sealers are available (resin sealers, ZOE sealers, mineral trioxide aggregate sealer, bio-ceramic containing sealers, glass ionomer containing sealer, calcium hydroxide containing sealer). Root canal sealers have different functions- antibacterial, lubricant for core material, to increase radio-opacity of core or as a filling material. Different types of microorganisms as well as microbial products cause pulpal as well as peri-radicular diseases. Microorganisms persist in the canal due to poor irrigation. We wanted to evaluate the various functions of different endodontic sealers. The perfect apical seal obtained by use of sealers is one which is stable and non-irritating in nature. It should also give us a smoother seal. Biocompatibility of root canal sealer has importance as it is placed directly in contact with the living tissue. Response of dental tissue help in the final outcome of successful endodontic treatment. Bond strength between canal walls exhibit through micromechanical retention. It helps in preventing the dislodgement of filling material. It ultimately helps in maintenance of interface between filling material and sealers. Push out test is the process to assess bond strength among filling material and sealers. Endodontic sealer has sufficient amount of radiopacity so that it can be clearly visualised among material and adjacent anatomical structures.

Removal Techniques for Intracanal Medicament- A Review

This article reviews irrigation techniques for removal of intracanal medicament in endodontic practice. Microorganisms are the primary etiological factors for pulpal and periradicular diseases. So primary purpose is to completely eradicate microorganism from the root canal. It is done through chemo-mechanical preparation of the canal. Complete disinfection of the pulp space cannot be achieved with most sophisticated instrumentation techniques. Therefore use of inter appointment intracanal medicaments is mandatory. Removal of the medicament is mandatory, as its remnants may mechanically block the apical area of the root canal system. Also affects viscosity, working time, tubule penetration and adhesion of root canal sealers. Remnants of Ca(OH)2 in the canal react with unreacted eugenol present in ZOE based sealer to form calcium eugenolate. Today’s irrigation armamentarium presents a diverse variety of tools and techniques , that can assist the practitioner in reducing bacteria, debris, intracanal medicament within the canal system. Conventional syringe irrigation is a routinely practiced method for removal of medicament. It consists of delivering the irrigant in the canal passively or by agitation. Rotary brush does not actually render irrigating solution for removal of medicament. This acts like auxiliaries during removal of medicament from canal or for increased movement of irrigating solution. Ultrasonic irrigation is done with or without simultaneous ultrasonic instrumentation. EndoVac is negative pressure irrigation, which can be used as an alternative method that helps in safe removal of medicament in apical thirds. RinsEndo is also based on pressure alteration technology like EndoVac. Sonically driven system safely acti­vates various intracanal reagents and vigorously produces the hydrodynamic phenomenon as it includes EndoActivator and Vibringe. Laser activated irrigation is more effective for cleaning of root canal. Er:YAG is most commonly used laser in endodontics. Therefore, the aim of this article is to highlight the irrigation techniques used for removal of the intracanal medicament in endodontic practice.

Microleakage in Composite Resin Restoration- A Review Article.

The most important feature that a material must have is sufficient, long term sealing of the restorative margins. No restorative material developed to date is completely adhesive to the tooth structure. Every restorative material allows some degree of passage of fluids and micronutrients through it. It is termed as Leakage. By definition Micro leakage is “the clinically undetectable passage of bacteria, fluids, molecules or ions between a cavity wall and the restorative material”. It is the flow of a substance into a defect at the interface of restoration and tooth margin. Marginal leakage around restorative margins has been a concern with various clinical conditions. It includes quickening of the breakdown and dissolution of restorative materials. Marginal staining leads to collapse of margins, compromise in aesthetics and with time the need to substitute the restoration. Microleakage depends on several variables like dimensional change of restorative material mainly because of thermal contraction, polymerisation shrinkage, water sorption, mechanical stresses and dimensional changes of tooth. Almost all microleakage studies suggested that the majority of the materials accessible currently leak meaning that they allow penetration of dyes, radioisotopes, or bacteria. Microleakage can be calculated by various in vitro methods with or without thermocycling like staining, SEM, chemical agents, neutron activation analysis, ionization, autoradiography, radioisotope, and reversible radioactive adsorption. Reducing the marginal leakage and enhancing the marginal adaptation involves various factors like choice or combinations of materials, use of cavity liner or base, cavity design or configuration factor changes, acid etching and bonding, technique of restoration placement, direct or indirect techniques, sealing the marginal gaps, and different curing strategies. This article describes in depth the knowledge about various aspects of leakage such as sequelae and causes of microleakage, methods of detection of microleakage in vitro as well as clinically, and the measures taken to reduce or decrease the microleakage when restoring tooth with resin-based restorations.

T cell costimulation, checkpoint inhibitors and anti-tumor therapy

The hallmarks of the adaptive immune response are specificity and memory. The cellular response is mediatedby T cells which express cell surface T cell receptors (TCRs) that recognize peptide antigens in complex withmajor histocompatibility complex (MHC) molecules on antigen presenting cells (APCs). However, binding ofcognate TCRs with MHC-peptide complexes alone (signal 1) does not trigger optimal T cell activation. Inaddition to signal 1, the binding of positive and negative costimulatory receptors to their ligands modulates Tcell activation. This complex signaling network prevents aberrant activation of T cells. CD28 is the mainpositive costimulatory receptor on naı¨ve T cells; upon activation, CTLA4 is induced but reduces T cellactivation. Further studies led to the identification of additional negative costimulatory receptors known ascheckpoints, e.g. PD1. This review chronicles the basic studies in T cell costimulation that led to the discoveryof checkpoint inhibitors, i.e. antibodies to negative costimulatory receptors (e.g. CTLA4 and PD1) whichreduce tumor growth. This discovery has been recognized with the award of the 2018 Nobel prize in Physiology/Medicine. This review highlights the structural and functional roles of costimulatory receptors, themechanisms by which checkpoint inhibitors work, the challenges encountered and future prospects.

Blood heavy metal levels in children with attention deficit hyperactivity disorder: an unsolved enigma

Background: The role of heavy metals in the etio-pathogenesis of attention deficit hyperactivity disorder (ADHD) is a burning enigma. The available studies with discordant results are from different geographical localities with different monitoring, regulations and sociocultural backgrounds. The differential association of heavy metals with ADHD severity and phenotypes has not been adequately examined. Also, there are concerns about laboratory quality control. Therefore, the present case control study was formulated.Methods: Thirty children with ADHD diagnosed by DSM IV criteria and thirty group age matched controls were enrolled. Detailed perinatal, past, developmental and possible exposure history to various heavy metals was taken. Severity of ADHD was assessed using ConnersTM Parent reporting questionnaire. Blood level of metals was estimated by inductively coupled plasma- atomic emission spectroscopy (ICP-AES).Results: The mean blood lead, mercury, cadmium, arsenic, zinc were comparable in children with ADHD and group age matched controls. The mean blood lead, mercury and cadmium levels in study population was higher than found in studies from developed countries. Elevated arsenic, mercury and cadmium were found in both cases and controls. Blood zinc correlated significantly with inattention T score and blood mercury with hyperactivity-impulsitivity T score of Conners parent rating scale. Blood cadmium was present in greater proportion of predominant hyperactive-impulsive type patients.Conclusions: Zinc deficiency correlates with inattention; cadmium and mercury toxicity correlate with hyperactivity. Mean blood levels of heavy metals is elevated in a substantial proportion of study population. So, there is an urgent need for sensitization and environmental control.

Management of Infants with Congenital Adrenal Hyperplasia

Treatment of congenital adrenal hyperplasia (CAH) requires lifelong replacement of glucocorticoids with regular follow up to manageassociated morbidities. The current review focuses on follow-up and management of infants diagnosed with classical CAH pertinent toIndian context. Early initiation of oral hydrocortisone in divided doses is recommended after diagnosis in newborn period, infancy andchildhood. Fludrocortisone is recommended for all infants with classical CAH. All infants should be monitored as per protocol fordisease and treatment related complications. The role of prenatal steroids to pregnant women with previous history of CAH affectedinfant for prevention of virilization of female fetus is controversial.

Newborn Screening and Diagnosis of Infants with Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia (CAH) is an autosomal recessive endocrine disorder which can manifest after birth with ambiguousgenitalia and salt-wasting crisis. However, genital ambiguity is not seen in male babies and may be mild in female babies, leading to amissed diagnosis of classical CAH at birth. In this review, we provide a standard operating protocol for routine newborn screening forCAH in Indian settings. A standardization of first tier screening tests with a single consistent set of cut-off values stratified by gestationalage is also suggested. The protocol also recommends a two-tier protocol of initial immunoassay/time resolved fluoroimmunoassayfollowed by liquid chromatography tandem mass spectrometry for confirmation of screen positive babies, wherever feasible. Routinemolecular and genetic testing is not essential for establishing the diagnosis in all screen positive babies, but has significant utility inprenatal diagnosis and genetic counseling for future pregnancy.

Feasibility of Different Methods after Debonding of Orthodontic Brackets: An In Vivo Study

Aim: This study aims to evaluate and compare the discomfort levels during debonding using different three methods and adhesive remnant index (ARI) scores compared. Materials and Methods: Sample comprised 50 female patients from single clinic of an average age of 24 years and 5 months. Three methods used were lift-off debonding instrument (LODI), straight cutter, and Howe plier. At the end of debonding in each quadrant, discomfort levels were assessed using visual analog scale (VAS). Remaining adhesive on enamel surface was studied with the help of ARI. Results: Pain scores were significantly higher for SC method. LODI group showed least discomfort. ARI showed significantly different results with three methods used. Conclusion: Patients showed least discomfort when LODI method was used.

The Introduction Of Clinical Practice Guideline For The Management Of Suspected Appendicitis In Female Patients May Influence Computed Tomography Usage

Introduction-Concerns about the radiation exposure have led to decrease in use of computed tomography (CT) in appendicitis, with increased reliance on the ultrasound. Females with appendicitis should be risk stratied using the combination of the clinical signs and symptoms, white blood cell count (WBCs), and ultrasound in order to show further evaluation and management.Material and Methods-We prospectively evaluated the clinical guideline in female patients with suspected . Patients were risk-appendicitisstratied based on the history, physical examination ndings, and laboratory results. Imaging was ordered selectively based on the risk category, with ultrasound as initial imaging modality. Computed tomography was ordered if US was indeterminate or negative.Results-One hundred and twenty patients were involved in the study with 49 patients having had appendicectomies for appendicitis while 71 were not diagnosed with apendicititis. CTusage was less in the post guideline implementation. There was not much difference between the sensitivity and the specicity of Ct and USG ndings.Conclusion-We concluded that hospitals with the high CTusage rates for appendicitis may reduce their CTusage to be reliable with national average & clinical practice guidelines.

Profile of Dengue Fever in Hospitalized Children in Saurashtra, Gujarat, 2013-2017

Objective: To study the five year trend of epidemiological and demographic characteristics ofdengue infections from year 2013 to 2017 among children upto 15 years. Methods: Thisstudy presents data from review of microbiology department records of samples for denguetesting with information supplied by clinicians on the investigation request form. Patientswere tested for NS1 Ag, IgM Ab or both. Results: Out of 4216 samples, 1072 (25.4%) werepositive for dengue. Positivity ranged from 44.1% in year 2013, 25.8% in 2015 to 16.1% inyear 2017. Most cases reported were among male (57.9%), from urban areas (77.9%) andRajkot district (75.7%). Reporting of dengue cases increased from July to November withpeak during October every year. Conclusion: Serum samples for dengue serology weremore commonly positive in July-September months during the study period, and in malechildren, and those from urban areas.

Aquagenic Wrinkling of Skin: A Screening Test for Cystic Fibrosis

Objectives: To study the utility of aquagenic wrinkling asscreening test for children with cystic fibrosis.Design: Evaluation of diagnostic test.Setting: Pediatric Chest Clinic, and Pediatric Wards of a tertiarycare hospital in New Delhi.Participants: Three groups (children with cystic fibrosis,carriers of cystic fibrosis, and controls).Method: Time taken to develop aquagenic wrinkling wasmeasured. The test was performed by asking the enrolled subjectto put their one hand in water and was checked for development ofwrinkling every minute, and a photograph was also taken everyminute.Results: A total of 64 children with cystic fibrosis, 64 controls and64 carriers were enrolled in the study. Median (IQR) time todevelop aquagenic wrinkling in the three groups was 2 (1.5,3)minutes, 4 (3,5) minutes and 8 (5,11) minutes, respectively. Theoptimal cut-off was calculated as 3 minutes by Receiveroperating characteristic curve with a sensitivity and specificityfor identification of children with cystic fibrosis as 81% and 57%,respectively. The area under curve was 76.5%. The 3 minutecut-off for development of aquagenic wrinkling was applied to 54children referred for sweat test. 20 children had sweat chloridevalues of ≥60 mEq/l and diagnosed as cystic fibrosis. 15 of thesedeveloped aquagenic wrinkling at ≤3 minutes, giving a sensitivityof 75%.Conclusion: In places with no facility for sweat test, childrenwith phenotype compatible with cystic fibrosis who developaquagenic wrinkling in 3 minutes may be diagnosed as probablecystic fibrosis and referred for confirmation by sweat tes

Prevalence, knowledge, attitude and practice regarding self-medication among medical, dental and paramedical students in a tertiary care hospital

Background: Self-medication is practiced universally. Having medical knowledge plays a vital role in its prevalence. It is more prevalent in higher education course students especially medical students. However, it is increasing in dental and paramedical students. Hence, this study was conducted to evaluate self-medication among medical, dental and para-medical students in a tertiary care hospital.Methods: A cross sectional questionnaire based study was conducted among 449 undergraduate students. They were divided into three groups. A questionnaire was developed based on literature. The questionnaire was validated and finalised. The paper questionnaire was administered to students. The data collected from questionnaires was analysed. The results were expressed as percentages and frequencies.Results: The male female ratio of students who filled questionnaire was 65:35. All the students (100%) reported that they practice self-medication. The most common reason for self-medication was prior experience (36%) in group A as well as in group B (46%), but in group C, 39% mentioned no serious problem. Main information source was family members in all the groups (A 57%, B 53%, C 29%) followed by advice from senior/friends. Fever was most common symptom reported (29%) by group A followed headache (28%) in group C and cough and cold (23%) in group B. The commonest group of drugs used is cough syrups (25%) in group B, followed by analgesics (23%) in group C and antipyretics (21%) in group A.Conclusions: Self-medication is growing among dental and paramedical students too. It is necessary to educate them about self-medication to prevent future disastrous consequences as well as to make them aware of appropriate use of self-medication.

Cognitive Function Assessment In Mild To Moderate Copd Patients Through P300, Erp Study

Event-related potentials (ERPs) provide a non-invasive method of studying ain neural activity, with P300 wave components reflecting the speed of cognitive processes. In our study we primarily focused on finding cognitive impairment in the initial stage of the Chronic obstructive pulmonary disease (COPD) through latency and amplitude study of P300 wave. We enrolled equal number (n = 35) of COPD cases and healthy controls. Mean value of Latency at Fz, Cz, Pz was significantly decreased in cases as compared to control group (p = 0.007, p = 0.001, p = 0.006 respectively). Similarly, mean averaged latency was also decreased in COPD vs controls (p = 0.008). Furthermore, a significant positive correlation between MEF25-75% and amplitude at Cz in the COPD cases (r = 0.3534, p = 0.037) was observed. The results obtained in our study suggests that the cognitive dysfunction is present even in mild to moderate COPD patients. The positive association between the spirometric parameters and P300 variables obtained in our study also suggests that with deterioration in lung functions there is decline in cognition.

Molecular Testing of MECP2 Gene in Rett Syndrome Phenotypes in Indian Girls

Objective: To assess yield of MECP2 gene sequence variationsanalysis and large deletions in suspected cases of Rettsyndrome.Design: Descriptive study.Setting: Tertiary-care medical genetics center.Patients: Girls with neuroregression, postnatal microcephaly andsigns and symptoms suggestive of classical and atypical Rettsyndrome were classified into two groups. Group I consisted ofgirls with Classical and atypical Rett syndrome on basis on theRevised Rett Syndrome diagnostic criteria, 2010. Group II includedgirls with neuroregression and postnatal microcephaly and otherRett like features but not fulfilling the above criteria.Procedure: Sanger sequencing of coding regions and largedeletional analysis of MECP2 gene.Outcome measure: Identification of mutation in MECP2 gene.Result: Mutation in MECP2 gene was identified in 74% (14/19) ingroup I and none (0/17) in group II. The mutation detection ratewas 93% (13/14) in group I classical Rett syndrome girls (2 withlarge deletions identified with Multiplex ligation dependent probeamplification) and 20% (1/5) in group I atypical Rett syndromegirls. One novel MECP2 sequence variation was identified ingroup I classical Rett syndrome.Conclusion: The yield of the mutation detection in MECP2 ishigher in classical Rett syndrome. In girls with some Rett likefeatures, but not fulfilling revised Rett syndrome diagnosticcriteria, mutation testing for MECP2 gene has a low yield