AbstractPontocerebellar Hypoplasia (PCH) refers to a group of rare, progressive, and hereditary neurode- generative disorders with prenatal onset. Different subtypes have been identified based on the mu- tations present, and all share common characteristics, such as severe cognitive, linguistic, and motor disabilities.
Small Supernumerary Marker Chromosome (sSMC) is a rare genetic condition marked by the presence of an extra chromosome to the 46 human chromosomes. This case report describes a 4 year old child with SSMC on the 46th chromosome. The child presented with delayed speech and language development, seizures and mild developmental delay. Speech and Language evaluation was carried out and management options are discussed.
ANNOTATIONManagement of childhood stutteringMark Onslow .docxjustine1simpson78276
ANNOTATION
Management of childhood stuttering
Mark Onslow and Sue O’Brian
Australian Stuttering Research Centre, The University of Sydney, Sydney, New South Wales, Australia
Abstract: Stuttering is a speech disorder that begins during the first years of life and is among the most prevalent of developmental disorders.
It appears to be a problem with neural processing of speech involving genetics. Onset typically occurs during the first years of life, shortly after
language development begins. Clinical presentation during childhood is interrupted and effortful speech production, often with rapid onset. If
not corrected during early childhood, it becomes intractable and can cause psychological, social, educational and occupational problems. There
is evidence from replicated clinical trials to support early intervention during the pre-school years. Meta-analysis of studies indicates that children
who receive early intervention during the pre-school years are 7.7 times more likely to have resolution of their stuttering. Early intervention is
recommended with a speech pathologist. Some children who begin to stutter will recover without such intervention. However, the number of
such recoveries is currently not known, and it is not possible to predict which children are likely to recover naturally. Consequently, the current
best practice is for speech pathologists to monitor children for signs of natural recovery for up to 1 year before beginning treatment.
Key words: diagnosis; management; paediatrics; stuttering; treatment.
Stuttering
Stuttering, also known as stammering in the United Kingdom,
is a speech disorder that begins during the first years of life. A
recent community cohort study of 1619 Australian children
recruited at 8 months old found that 8.5% had begun to
stutter by 3 years of age.1 The shape of the cumulative inci-
dence plot suggests that more cases will emerge as the cohort
is studied further. Onset was found to be essentially unpre-
dictable, with only 3.7% of cases explainable with case
history variables such as advanced language development,
twinning and maternal education level. A report of 3 to
17-year-olds derived from the United States National Health
Interview Surveys (n = 95,132) showed stuttering to be the
equal third most prevalent developmental disorder from
among nine, which included attention-deficit/hyperactivity
disorder, autism, cerebral palsy and learning disability.2 The
reported prevalence was 1.6%.
The cause of stuttering is currently unknown; however, brain
imaging data suggest that it involves a problem with neural
processing of speech,3 linked to structural and functional
anomalies at brain sites responsible for spoken language.4,5 As
these anomalies have only been investigated with school chil-
dren and adults, it is unclear whether they are a cause or an
effect of the disorder. There is genetic involvement in stuttering,
with clear evidence of vertical transmission within families.6
Around two th.
The impact of traumatic childhood experiences on cognitive and behavioural fu...BARRY STANLEY 2 fasd
Early diagnosis and interventions can help to prevent or reduce secondary conditions
associated with FASD: early diagnosis is associated with fewer adverse and more positive life outcomes in individuals with FASD (Streissguth et al., 2011) and emerging data on interventions are showing a similar effect (Carmichael-Olson & Montague, 2011). Interventions generally include pharmacological, behavioural and educational treatments, and many of these have shown promising results, but much more data are required in order to inform and develop theoretical foundations, methods and outcomes (Chandrasena, Mukherjee, & Turk, 2009; Mukherjee, Cook, Fleming, & Norgate, 2016). Moreover, risk factors such as abuse and neglect have received little attention within the FASD literature, leaving a risk that these factors are confounding results and conclusions.
This thesis was proposed in a collaboration between the National FASD Clinic and the University of Salford in order to develop the limited understanding of the expected presentation and development of children with exposure to both prenatal alcohol and postnatal trauma, with the long-term aim of improving interventions in this population.
Small Supernumerary Marker Chromosome (sSMC) is a rare genetic condition marked by the presence of an extra chromosome to the 46 human chromosomes. This case report describes a 4 year old child with SSMC on the 46th chromosome. The child presented with delayed speech and language development, seizures and mild developmental delay. Speech and Language evaluation was carried out and management options are discussed.
ANNOTATIONManagement of childhood stutteringMark Onslow .docxjustine1simpson78276
ANNOTATION
Management of childhood stuttering
Mark Onslow and Sue O’Brian
Australian Stuttering Research Centre, The University of Sydney, Sydney, New South Wales, Australia
Abstract: Stuttering is a speech disorder that begins during the first years of life and is among the most prevalent of developmental disorders.
It appears to be a problem with neural processing of speech involving genetics. Onset typically occurs during the first years of life, shortly after
language development begins. Clinical presentation during childhood is interrupted and effortful speech production, often with rapid onset. If
not corrected during early childhood, it becomes intractable and can cause psychological, social, educational and occupational problems. There
is evidence from replicated clinical trials to support early intervention during the pre-school years. Meta-analysis of studies indicates that children
who receive early intervention during the pre-school years are 7.7 times more likely to have resolution of their stuttering. Early intervention is
recommended with a speech pathologist. Some children who begin to stutter will recover without such intervention. However, the number of
such recoveries is currently not known, and it is not possible to predict which children are likely to recover naturally. Consequently, the current
best practice is for speech pathologists to monitor children for signs of natural recovery for up to 1 year before beginning treatment.
Key words: diagnosis; management; paediatrics; stuttering; treatment.
Stuttering
Stuttering, also known as stammering in the United Kingdom,
is a speech disorder that begins during the first years of life. A
recent community cohort study of 1619 Australian children
recruited at 8 months old found that 8.5% had begun to
stutter by 3 years of age.1 The shape of the cumulative inci-
dence plot suggests that more cases will emerge as the cohort
is studied further. Onset was found to be essentially unpre-
dictable, with only 3.7% of cases explainable with case
history variables such as advanced language development,
twinning and maternal education level. A report of 3 to
17-year-olds derived from the United States National Health
Interview Surveys (n = 95,132) showed stuttering to be the
equal third most prevalent developmental disorder from
among nine, which included attention-deficit/hyperactivity
disorder, autism, cerebral palsy and learning disability.2 The
reported prevalence was 1.6%.
The cause of stuttering is currently unknown; however, brain
imaging data suggest that it involves a problem with neural
processing of speech,3 linked to structural and functional
anomalies at brain sites responsible for spoken language.4,5 As
these anomalies have only been investigated with school chil-
dren and adults, it is unclear whether they are a cause or an
effect of the disorder. There is genetic involvement in stuttering,
with clear evidence of vertical transmission within families.6
Around two th.
The impact of traumatic childhood experiences on cognitive and behavioural fu...BARRY STANLEY 2 fasd
Early diagnosis and interventions can help to prevent or reduce secondary conditions
associated with FASD: early diagnosis is associated with fewer adverse and more positive life outcomes in individuals with FASD (Streissguth et al., 2011) and emerging data on interventions are showing a similar effect (Carmichael-Olson & Montague, 2011). Interventions generally include pharmacological, behavioural and educational treatments, and many of these have shown promising results, but much more data are required in order to inform and develop theoretical foundations, methods and outcomes (Chandrasena, Mukherjee, & Turk, 2009; Mukherjee, Cook, Fleming, & Norgate, 2016). Moreover, risk factors such as abuse and neglect have received little attention within the FASD literature, leaving a risk that these factors are confounding results and conclusions.
This thesis was proposed in a collaboration between the National FASD Clinic and the University of Salford in order to develop the limited understanding of the expected presentation and development of children with exposure to both prenatal alcohol and postnatal trauma, with the long-term aim of improving interventions in this population.
Effects of Hyperbaric Oxygen Therapy on Brain Perfusion, Cognition and Behavi...BARRY STANLEY 2 fasd
Abstract
A 15-year-old girl diagnosed with FASD underwent 100 courses of hyperbasic oxygen therapy (HBOT). Prior to HBOT, single motion emission compute tomographic begin imaging (SPECT)
revealed areas of hypo-perfusion bilaterally in the orbitofrontal region, temporal lobes and right dorsolateral—frontal, as well the medial aspect of the left cerebellum. Following two sets of HBOT treatments (60 plus 40), over 6 months, there was improvement in perfusion to the left cerebellum as well as the right frontal lobe. This was paralleled by improvement in immediate cognitive tests and an increase in functional brain volume. A follow-up 18 months after HBOT showed sustained
improvement in attention with no need for methylphenidate, as well as in math skills and writing.
Fetal Alcohol Spectrum Disorder is a clinical condition that has aroused the interest of researchers as it is considered relatively common in the population, with an incidence of approximately 10 cases per 1,000 births. The neurodevelopmental changes that characterize the phenotype of this condition are described by deficits in memory, attention, visual-spatial and executive function, learning disabilities and the presence of spoken language impairment. Considering the language deficit as part of Fetal Alcohol Spectrum Disorder, we proposed to review the literature to identify which procedures are used in the assessment of language and findings reported in language in Fetal Alcohol Spectrum Disorder. The 21 articles selected in this review reflect variability in methodology and commonly used procedures assessment of spoken language. The spoken language profile of individuals diagnosed with Fetal Alcohol Spectrum Disorder is characterized by different performance and with varying degrees of impairment. Several factors influence the variability of spoken language impairment described in Fetal Alcohol Spectrum Disorders, and the amount of alcohol consumed, the gestation period when consumption took place and individual susceptibility of each fetus to metabolize alcohol in the body are often described
TRANSDISCIPLINARY APPROACH TO SPEECH THERAPY WITH CHILDREN WITH ALALIASubmissionResearchpa
The article discloses the practical side of the transdisciplinary approach in speech therapy work and rehabilitation of children with alalia. In diagnosing speech disorders, the author believes that the behavior of children with alalia is closely related to the physiological activity of the brain, that diagnosis of speech disorders based on EEG and neuropsychological methods, as well as knowledge of the insufficiency of individual brain structures, which is supported by data from electroencephalographic research, are important for speech therapists in complex rehabilitation. Binaural therapy (individual alpha balance correction program) was used for children after EEG diagnosis of their dominant alpha rhythm, which matched their dominant rhythm in the selected time interval by Karimova Shoira Tursunovna 2020. TRANSDISCIPLINARY APPROACH TO SPEECH THERAPY WITH CHILDREN WITH ALALIA. International Journal on Integrated Education. 3, 8 (Sep. 2020), 238-241. DOI:https://doi.org/10.31149/ijie.v3i8.574 https://journals.researchparks.org/index.php/IJIE/article/view/574/549 https://journals.researchparks.org/index.php/IJIE/article/view/574
Preprint of:
Bishop, D. V. M. (2004). Specific language impairment: diagnostic dilemmas. In L. Verhoeven & H. Van Balkom (Eds.), Classification of Developmental Language Disorders (pp. 309-326). Mahwah, NJ.: Erlbaum.
Role of Speech Therapy in Overcoming Lexical Deficit in Adult Broca’s Aphasia
Tanzeela Abid & Dr. Habibullah Pathan,
English Language Development Centre, Faculty of Science, Technology and Humanities, Mehran University of Engineering and Technology, Pakistan
This is an exploratory study and qualitative in nature. Unit of exploration is ‘Adult Broca’s Aphasic Patients.’ This paper aims to explore the function and integrity of ‘Speech Therapy’ for adult Broca’s aphasia. Aphasia is the after-effect of brain damage, commonly found in left hemisphere which disrupts language faculty. The present study focuses on ‘Lexical’ aspect of language in which an individual faces trouble in processing of words. In Broca’s aphasia affected individual suffers from diminished capability of speaking/communication. To recover such diminished capabilities, speech therapy is utilized. This study intends to investigate the effectiveness of speech therapy that how speech therapy helps to adult Broca’s aphasia to recover their speaking or conversing skills? Participants of the study are ‘Speech therapists.’ Purposeful sampling, particularly Snowball sampling has been undertaken. Semi-structured interviews have been conducted from five speech therapists, which have been analyzed through thematic analysis under the light of ‘Sketch Model’ given by De ruiter and De beer (2013). The Findings of the study suggest that speech therapy may be proved helpful for Broca’s aphasia to recover their communicating capabilities but it requires much time (minimum 6 months). Moreover, recovery depends upon certain factors such as age, level of disorder and willingness.
Keywords: Broca’s Aphasia, Lexical Deficit, Speech Therapy, Communication, Speaking Skills
The Sixth International Conference on Languages, Linguistics, Translation and Literature
9-10 October 2021 , Ahwaz
For more information, please visit the conference website:
WWW.LLLD.IR
Ethics Review Preparedness During COVID-19 Outbreak and Local IRBs in Pakista...SarkarRenon
Current COVID-19 outbreak has shaken almost all aspects of health. Pakistan is lower middle income
country where health system is fragmented due to chronic state of underinvestment in health. Provision
of basic health care during the current COVID-19 outbreak remains daunting task. Ethics and
regulatory systems are not fully mature [1]
Dynamics of the COVID-19 Comparison between the Theoretical Predictions and t...SarkarRenon
A new coronavirus disease, called COVID-19, appeared in the Chinese region of Wuhan at the end of
last year; since then the virus spread to other countries, including most of Europe. We propose a
differential equation governing the evolution of the COVID-19. This dynamic equation also describes the evolution of the number of infected people for 13 common respiratory viruses (including
the SARS-CoV-2).
AbstractIntestinal cystic pneumatosis is a rare condition characterized by the presence of gaseous cysts in the intestinal wall.We report the observation of a 51-year-old patient with dyspepsia syndrome and recurrent episodes of abdominal pain who had a three-day cessation of materials and gas for three days. The clinical ex-...
Aorto-Esophageal Fistula and Metallic StentSarkarRenon
Esophageal metallic stents are indicated in the palliative treatment of malignant dysphagia [1]. The ones usually used are covered or partially covered. They have a low mortality rate directly asso- ciated (0.5-2%) [2]. As with any endoscopic therapeutic procedure, it can get complicated.
A Mild form of Familial Mediterranean Fever Associated with a Polymorphisms C...SarkarRenon
Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disease caused bymutation(s) in the Mediterranean fever (MEFV, pyrinmarenostrin) gene. FMF is characterized byrecurrent fever crisis combined with serosal, synovial, or cutìaneous inflammation. Until now morethan 304 sequence variants have been recorded. Here, we describe a case of mild FMF confirmedby...
More Related Content
Similar to Pontocerebellar Hypoplasia: Literature Review and Clinical Study
Effects of Hyperbaric Oxygen Therapy on Brain Perfusion, Cognition and Behavi...BARRY STANLEY 2 fasd
Abstract
A 15-year-old girl diagnosed with FASD underwent 100 courses of hyperbasic oxygen therapy (HBOT). Prior to HBOT, single motion emission compute tomographic begin imaging (SPECT)
revealed areas of hypo-perfusion bilaterally in the orbitofrontal region, temporal lobes and right dorsolateral—frontal, as well the medial aspect of the left cerebellum. Following two sets of HBOT treatments (60 plus 40), over 6 months, there was improvement in perfusion to the left cerebellum as well as the right frontal lobe. This was paralleled by improvement in immediate cognitive tests and an increase in functional brain volume. A follow-up 18 months after HBOT showed sustained
improvement in attention with no need for methylphenidate, as well as in math skills and writing.
Fetal Alcohol Spectrum Disorder is a clinical condition that has aroused the interest of researchers as it is considered relatively common in the population, with an incidence of approximately 10 cases per 1,000 births. The neurodevelopmental changes that characterize the phenotype of this condition are described by deficits in memory, attention, visual-spatial and executive function, learning disabilities and the presence of spoken language impairment. Considering the language deficit as part of Fetal Alcohol Spectrum Disorder, we proposed to review the literature to identify which procedures are used in the assessment of language and findings reported in language in Fetal Alcohol Spectrum Disorder. The 21 articles selected in this review reflect variability in methodology and commonly used procedures assessment of spoken language. The spoken language profile of individuals diagnosed with Fetal Alcohol Spectrum Disorder is characterized by different performance and with varying degrees of impairment. Several factors influence the variability of spoken language impairment described in Fetal Alcohol Spectrum Disorders, and the amount of alcohol consumed, the gestation period when consumption took place and individual susceptibility of each fetus to metabolize alcohol in the body are often described
TRANSDISCIPLINARY APPROACH TO SPEECH THERAPY WITH CHILDREN WITH ALALIASubmissionResearchpa
The article discloses the practical side of the transdisciplinary approach in speech therapy work and rehabilitation of children with alalia. In diagnosing speech disorders, the author believes that the behavior of children with alalia is closely related to the physiological activity of the brain, that diagnosis of speech disorders based on EEG and neuropsychological methods, as well as knowledge of the insufficiency of individual brain structures, which is supported by data from electroencephalographic research, are important for speech therapists in complex rehabilitation. Binaural therapy (individual alpha balance correction program) was used for children after EEG diagnosis of their dominant alpha rhythm, which matched their dominant rhythm in the selected time interval by Karimova Shoira Tursunovna 2020. TRANSDISCIPLINARY APPROACH TO SPEECH THERAPY WITH CHILDREN WITH ALALIA. International Journal on Integrated Education. 3, 8 (Sep. 2020), 238-241. DOI:https://doi.org/10.31149/ijie.v3i8.574 https://journals.researchparks.org/index.php/IJIE/article/view/574/549 https://journals.researchparks.org/index.php/IJIE/article/view/574
Preprint of:
Bishop, D. V. M. (2004). Specific language impairment: diagnostic dilemmas. In L. Verhoeven & H. Van Balkom (Eds.), Classification of Developmental Language Disorders (pp. 309-326). Mahwah, NJ.: Erlbaum.
Role of Speech Therapy in Overcoming Lexical Deficit in Adult Broca’s Aphasia
Tanzeela Abid & Dr. Habibullah Pathan,
English Language Development Centre, Faculty of Science, Technology and Humanities, Mehran University of Engineering and Technology, Pakistan
This is an exploratory study and qualitative in nature. Unit of exploration is ‘Adult Broca’s Aphasic Patients.’ This paper aims to explore the function and integrity of ‘Speech Therapy’ for adult Broca’s aphasia. Aphasia is the after-effect of brain damage, commonly found in left hemisphere which disrupts language faculty. The present study focuses on ‘Lexical’ aspect of language in which an individual faces trouble in processing of words. In Broca’s aphasia affected individual suffers from diminished capability of speaking/communication. To recover such diminished capabilities, speech therapy is utilized. This study intends to investigate the effectiveness of speech therapy that how speech therapy helps to adult Broca’s aphasia to recover their speaking or conversing skills? Participants of the study are ‘Speech therapists.’ Purposeful sampling, particularly Snowball sampling has been undertaken. Semi-structured interviews have been conducted from five speech therapists, which have been analyzed through thematic analysis under the light of ‘Sketch Model’ given by De ruiter and De beer (2013). The Findings of the study suggest that speech therapy may be proved helpful for Broca’s aphasia to recover their communicating capabilities but it requires much time (minimum 6 months). Moreover, recovery depends upon certain factors such as age, level of disorder and willingness.
Keywords: Broca’s Aphasia, Lexical Deficit, Speech Therapy, Communication, Speaking Skills
The Sixth International Conference on Languages, Linguistics, Translation and Literature
9-10 October 2021 , Ahwaz
For more information, please visit the conference website:
WWW.LLLD.IR
Ethics Review Preparedness During COVID-19 Outbreak and Local IRBs in Pakista...SarkarRenon
Current COVID-19 outbreak has shaken almost all aspects of health. Pakistan is lower middle income
country where health system is fragmented due to chronic state of underinvestment in health. Provision
of basic health care during the current COVID-19 outbreak remains daunting task. Ethics and
regulatory systems are not fully mature [1]
Dynamics of the COVID-19 Comparison between the Theoretical Predictions and t...SarkarRenon
A new coronavirus disease, called COVID-19, appeared in the Chinese region of Wuhan at the end of
last year; since then the virus spread to other countries, including most of Europe. We propose a
differential equation governing the evolution of the COVID-19. This dynamic equation also describes the evolution of the number of infected people for 13 common respiratory viruses (including
the SARS-CoV-2).
AbstractIntestinal cystic pneumatosis is a rare condition characterized by the presence of gaseous cysts in the intestinal wall.We report the observation of a 51-year-old patient with dyspepsia syndrome and recurrent episodes of abdominal pain who had a three-day cessation of materials and gas for three days. The clinical ex-...
Aorto-Esophageal Fistula and Metallic StentSarkarRenon
Esophageal metallic stents are indicated in the palliative treatment of malignant dysphagia [1]. The ones usually used are covered or partially covered. They have a low mortality rate directly asso- ciated (0.5-2%) [2]. As with any endoscopic therapeutic procedure, it can get complicated.
A Mild form of Familial Mediterranean Fever Associated with a Polymorphisms C...SarkarRenon
Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disease caused bymutation(s) in the Mediterranean fever (MEFV, pyrinmarenostrin) gene. FMF is characterized byrecurrent fever crisis combined with serosal, synovial, or cutìaneous inflammation. Until now morethan 304 sequence variants have been recorded. Here, we describe a case of mild FMF confirmedby...
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Basavarajeeyam is an important text for ayurvedic physician belonging to andhra pradehs. It is a popular compendium in various parts of our country as well as in andhra pradesh. The content of the text was presented in sanskrit and telugu language (Bilingual). One of the most famous book in ayurvedic pharmaceutics and therapeutics. This book contains 25 chapters called as prakaranas. Many rasaoushadis were explained, pioneer of dhatu druti, nadi pareeksha, mutra pareeksha etc. Belongs to the period of 15-16 century. New diseases like upadamsha, phiranga rogas are explained.
Recomendações da OMS sobre cuidados maternos e neonatais para uma experiência pós-natal positiva.
Em consonância com os ODS – Objetivos do Desenvolvimento Sustentável e a Estratégia Global para a Saúde das Mulheres, Crianças e Adolescentes, e aplicando uma abordagem baseada nos direitos humanos, os esforços de cuidados pós-natais devem expandir-se para além da cobertura e da simples sobrevivência, de modo a incluir cuidados de qualidade.
Estas diretrizes visam melhorar a qualidade dos cuidados pós-natais essenciais e de rotina prestados às mulheres e aos recém-nascidos, com o objetivo final de melhorar a saúde e o bem-estar materno e neonatal.
Uma “experiência pós-natal positiva” é um resultado importante para todas as mulheres que dão à luz e para os seus recém-nascidos, estabelecendo as bases para a melhoria da saúde e do bem-estar a curto e longo prazo. Uma experiência pós-natal positiva é definida como aquela em que as mulheres, pessoas que gestam, os recém-nascidos, os casais, os pais, os cuidadores e as famílias recebem informação consistente, garantia e apoio de profissionais de saúde motivados; e onde um sistema de saúde flexível e com recursos reconheça as necessidades das mulheres e dos bebês e respeite o seu contexto cultural.
Estas diretrizes consolidadas apresentam algumas recomendações novas e já bem fundamentadas sobre cuidados pós-natais de rotina para mulheres e neonatos que recebem cuidados no pós-parto em unidades de saúde ou na comunidade, independentemente dos recursos disponíveis.
É fornecido um conjunto abrangente de recomendações para cuidados durante o período puerperal, com ênfase nos cuidados essenciais que todas as mulheres e recém-nascidos devem receber, e com a devida atenção à qualidade dos cuidados; isto é, a entrega e a experiência do cuidado recebido. Estas diretrizes atualizam e ampliam as recomendações da OMS de 2014 sobre cuidados pós-natais da mãe e do recém-nascido e complementam as atuais diretrizes da OMS sobre a gestão de complicações pós-natais.
O estabelecimento da amamentação e o manejo das principais intercorrências é contemplada.
Recomendamos muito.
Vamos discutir essas recomendações no nosso curso de pós-graduação em Aleitamento no Instituto Ciclos.
Esta publicação só está disponível em inglês até o momento.
Prof. Marcus Renato de Carvalho
www.agostodourado.com
These lecture slides, by Dr Sidra Arshad, offer a quick overview of the physiological basis of a normal electrocardiogram.
Learning objectives:
1. Define an electrocardiogram (ECG) and electrocardiography
2. Describe how dipoles generated by the heart produce the waveforms of the ECG
3. Describe the components of a normal electrocardiogram of a typical bipolar lead (limb II)
4. Differentiate between intervals and segments
5. Enlist some common indications for obtaining an ECG
6. Describe the flow of current around the heart during the cardiac cycle
7. Discuss the placement and polarity of the leads of electrocardiograph
8. Describe the normal electrocardiograms recorded from the limb leads and explain the physiological basis of the different records that are obtained
9. Define mean electrical vector (axis) of the heart and give the normal range
10. Define the mean QRS vector
11. Describe the axes of leads (hexagonal reference system)
12. Comprehend the vectorial analysis of the normal ECG
13. Determine the mean electrical axis of the ventricular QRS and appreciate the mean axis deviation
14. Explain the concepts of current of injury, J point, and their significance
Study Resources:
1. Chapter 11, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 9, Human Physiology - From Cells to Systems, Lauralee Sherwood, 9th edition
3. Chapter 29, Ganong’s Review of Medical Physiology, 26th edition
4. Electrocardiogram, StatPearls - https://www.ncbi.nlm.nih.gov/books/NBK549803/
5. ECG in Medical Practice by ABM Abdullah, 4th edition
6. Chapter 3, Cardiology Explained, https://www.ncbi.nlm.nih.gov/books/NBK2214/
7. ECG Basics, http://www.nataliescasebook.com/tag/e-c-g-basics
Tom Selleck Health: A Comprehensive Look at the Iconic Actor’s Wellness Journeygreendigital
Tom Selleck, an enduring figure in Hollywood. has captivated audiences for decades with his rugged charm, iconic moustache. and memorable roles in television and film. From his breakout role as Thomas Magnum in Magnum P.I. to his current portrayal of Frank Reagan in Blue Bloods. Selleck's career has spanned over 50 years. But beyond his professional achievements. fans have often been curious about Tom Selleck Health. especially as he has aged in the public eye.
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Introduction
Many have been interested in Tom Selleck health. not only because of his enduring presence on screen but also because of the challenges. and lifestyle choices he has faced and made over the years. This article delves into the various aspects of Tom Selleck health. exploring his fitness regimen, diet, mental health. and the challenges he has encountered as he ages. We'll look at how he maintains his well-being. the health issues he has faced, and his approach to ageing .
Early Life and Career
Childhood and Athletic Beginnings
Tom Selleck was born on January 29, 1945, in Detroit, Michigan, and grew up in Sherman Oaks, California. From an early age, he was involved in sports, particularly basketball. which played a significant role in his physical development. His athletic pursuits continued into college. where he attended the University of Southern California (USC) on a basketball scholarship. This early involvement in sports laid a strong foundation for his physical health and disciplined lifestyle.
Transition to Acting
Selleck's transition from an athlete to an actor came with its physical demands. His first significant role in "Magnum P.I." required him to perform various stunts and maintain a fit appearance. This role, which he played from 1980 to 1988. necessitated a rigorous fitness routine to meet the show's demands. setting the stage for his long-term commitment to health and wellness.
Fitness Regimen
Workout Routine
Tom Selleck health and fitness regimen has evolved. adapting to his changing roles and age. During his "Magnum, P.I." days. Selleck's workouts were intense and focused on building and maintaining muscle mass. His routine included weightlifting, cardiovascular exercises. and specific training for the stunts he performed on the show.
Selleck adjusted his fitness routine as he aged to suit his body's needs. Today, his workouts focus on maintaining flexibility, strength, and cardiovascular health. He incorporates low-impact exercises such as swimming, walking, and light weightlifting. This balanced approach helps him stay fit without putting undue strain on his joints and muscles.
Importance of Flexibility and Mobility
In recent years, Selleck has emphasized the importance of flexibility and mobility in his fitness regimen. Understanding the natural decline in muscle mass and joint flexibility with age. he includes stretching and yoga in his routine. These practices help prevent injuries, improve posture, and maintain mobilit
CDSCO and Phamacovigilance {Regulatory body in India}NEHA GUPTA
The Central Drugs Standard Control Organization (CDSCO) is India's national regulatory body for pharmaceuticals and medical devices. Operating under the Directorate General of Health Services, Ministry of Health & Family Welfare, Government of India, the CDSCO is responsible for approving new drugs, conducting clinical trials, setting standards for drugs, controlling the quality of imported drugs, and coordinating the activities of State Drug Control Organizations by providing expert advice.
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In India, pharmacovigilance activities are monitored by the Pharmacovigilance Programme of India (PvPI), which works closely with CDSCO to collect, analyze, and act upon data regarding adverse drug reactions (ADRs). Together, they play a critical role in ensuring that the benefits of drugs outweigh their risks, maintaining high standards of patient safety, and promoting the rational use of medicines.
CDSCO and Phamacovigilance {Regulatory body in India}
Pontocerebellar Hypoplasia: Literature Review and Clinical Study
1. Annals of Clinical and Medical
Case Reports
ISSN 2639-8109
Research Article
Pontocerebellar Hypoplasia: Literature Review and Clinical Study
Rosa DCB¹*
, Azambuja DAR¹, Crenitte PAP¹, Tabaqim MLM¹, Lamonica DAC¹ and Hage SV¹
¹Department of Speech Hearing and Language Disorders, Faculdade de Odontologia de Bauru, Universidade de São Paulo (FOB-USP),
Brazil
2. Key words
Pontocerebellar hypoplasia; Lan-
guage; Cerebellar abnormalities;
Speech language disorders
3. Introduction
1. Abstract
Pontocerebellar Hypoplasia (PCH) refers to a group of rare, progressive, and hereditary neurode-
generative disorders with prenatal onset. Different subtypes have been identified based on the mu-
tations present, and all share common characteristics, such as severe cognitive, linguistic, and motor
disabilities. The objective of this study was to conduct a literature review and describe the clinical
case of a 79-month-old boy diagnosed with PCH in terms of cognitive, motor, communicative, and
linguistic skills. We also report the implications of the results on the therapeutic process and family
homeostasis, as well as our reflections on the matter. Four articles that met the inclusion criteria set
by the study were added to the review. The results of the psychological and speech therapy assessment
indicate intellectual disability, severe language disorder, and dysarthric speech. Knowledge regarding
the severity of these cases and the implications for the family of afflicted individuals when the clinical
prognosis is uncertain, can contribute to the therapeuticprocess.
ment of the patient. Additionally, currently no studies present the
Pontocerebellar hypoplasia (PCH) refers to a group of progressive,
severe, and rare neurodegenerative disorders with prenatal onset
that affect the development and function of the brainstem and cer-
ebellum, resulting in developmental disorders [1-3]. It is a geneti-
cally heterogeneous autosomal recessive condition [4-7]. PCH is a
purely descriptive term that implies a reduced volume of the bridge
and cerebellum [5].
As of January 2020, 13 PCH subtypes have been recorded in the
OMIM Portal [5]. The incidence rate of each subtype is unknown
[6, 7].
The disorder has only symptomatic treatment available and has a
poor prognosis. Additionally, life expectancy is difficult to deter-
mine, since death can occur at any point of development. Typically,
however, patients die in late childhood or adolescence, according
to most of the cases mentioned, although there is a possibility of
survival until adulthood [6].
Descrições neurorradiológicas e genéticas são encontradas na li-
teratura [1-14], porém com poucas informações sobre a evolução
desses casos em relação ao neurodesenvolvimento e aprendizado.
Some studies report severe changes in motor development, micro-
cephaly, motor and cognitive disorders [2, 5-9]. Despite the exis-
tence of descriptions of signs and symptoms in these areas, there
are limited data available on the characterization of the develop-
*Corresponding Author (s): Deborah Cristine Bonetti Rosa, Department of Speech
Hearing and Language Disorders, Faculdade de Odontologia de Bauru, Universidade de São
Paulo (FOB-USP), Al. Dr. Octávio Pinheiro Brisolla, 9-7 5; Bauru (SP), Brazil, Tele: (+55
014) 99897-7379, Email: deborah.bonetti7@gmail.com
phenotypic profiles of the disorder in terms of global development
and communication. The families of patients with rare and severe
disorders deal with the uncertainties of the future and the poor
prognoses, which can cause additional suffering and difficulties in
adhering to the therapeutic process[15].
In view of the above, the objective of this study was to conduct a
literature review and describe the clinical case of a 79-month-old
boy diagnosed with PCH, particularly in terms of cognitive, mo-
tor, communicative, and linguistic skills, as well as to report the
implications of the results on the therapeutic process, as well as on
family homeostasis.
4. Materials and Methods
Two bibliographic searches were carried out to find studies de-
scribing developmental skills and/or phenotypic profiles of cog-
nitive, motor, communicative, and linguistic skills in individuals
with PCH. The searches were performed in national and interna-
tional databases: Lilacs, PubMed, Scopus, Scielo, Web of Science,
and EMBASE. The descriptors were selected after consulting the
Health Sciences Descriptors (DeCS-BVS). The survey period cov-
ers 2000-2020.
The descriptors were as follows: pontocerebellar hypoplasia OR
cerebellar hypoplasia, AND (Language OR Cognition OR Cogni-
tion Disorders OR Speech OR Language Development Disorders
AuthorContributions:RosaDCB,AzambujaDAR,CrenittePAP,TabaqimMLM,Lamonica
DAC, Hage SV, These authors have contributed equally to this article.
Citation: Rosa DCB. Pontocerebellar Hypoplasia: Literature Review and Clinical Study.
Annals of Clinical and Medical Case Reports. 2020; 4(8): 1-4.
Volume 4 Issue 8- 2020
Received Date: 07 Aug2020
Accepted Date: 19 Aug2020
Published Date: 24 Aug2020
3. Volume 4 Issue 8-2020 ResearchArticle
http://www.acmcasereport.com/ 3
the inclusion criteria are shown in (Figure 2).
Figure 2: Results of the analysis using the inclusion criteria
Note: Adapted from: Moher D, Liberati A, Tetzlaff J, Altman DG,
PRISMA Group. Preferred reporting items for systematic reviews
andmeta-analyzes:thePRISMAStatement.PLoSMed.2015;6(7):
e1000097. doi: 0.5123 / S1679-49742015000200017
Chart 1 presents the results of the literature review, with the studies
that reported information on clinical characteristics and commu-
nication skills of individuals with PCH (Chart1).
Chart1:Articlesincludedinthestudythatreportinformationoncognition,motor,
language and communication
Included Articles Development data
Qian et. al (2014) (11)
- Cerebellar ataxia
- Unsteady gait and a tendency to fall, accompanied
by signs of dysphagia with liquids (coughing while
drinking) speech problems (slurred speech) ).
Sonmez et. al (2013) (12)
- Intellectual disability;
- Monotonous voice and unintelligible vocalizations; -
Speak with isolated words
- Short and unsteady gait
Steinlin et. al. (2007) (13)
- Movement disorder and developmental delay
- Breathing and / or suction problems during the
neonatal period
- The children analyzed showed inability to sit, walk or
talk (there was no speech development - vocalization
of sounds only in one child).
- Non-verbal social communication
- Hearing deficiency
Laugwitz et al. (2020) (14)
Global psychomotor deficits, involving gross and fine
motor skills, as well as language development. Ataxic
march. Vocalization of isolated words. Dysphagia.
ADHD. The signs of regression and stagnation were
noticed until the age of 12.
8. Language and Communication
Table 1 presents the results obtained in the speech and language as-
sessment using the following instruments: ADL: Language Acqui-
sition and Development [16], Denver-II Development Screening
Test [17], MacArthur Inventory [18]; Nonverbal Intelligence Test
(SON-R)[19]; Columbia Mental Maturity Test [20]; and Pré-WISC
[21] (Table 1).
Table 1 - Results of tests applied to speech and psychological assessment
Speech Therapy Evaluation
Assessment tools Results
ADL Scores below EP 69: Severe language disorder
DENVER – II
Language 30 months
Coarse motor 36 months
Fine-adaptive motor 30 months
Personal-social 36 months
MacArthur Inventory Can name objects, people's names and simple action verbs
Behavior observation
Speaks words alone - uses nouns and verbs. Tell facts from
concrete contexts with simple sentences, without using low
semantic words. There is distortion in speech, characterized as a
dysarthric condition.
Psychological Assessment
Nonverbal Intelligence
Test (SON-R)
It presents diffuse involvement of the various functions, causing
fundamental difficulty in learning and developing, mainly,
conceptual abilities. Picture suggestive of intellectual disability,
of non-specific severity, for associating cognitive deficits and
adaptive behavior, that is, distortion in the chronology, in
the rhythm and in the sequence of the basic functions for its
development, impairing the efficiency in reaching the expected
standards for its age and cultural group, in areas such as: social
skills, communication / language, personal independence,
responsibilities and self-sufficiency.
Columbia Mental
Maturity Test
Pré-WISC
9. Discussion
The literature review on the subject of Pontocerebellar Hypopla-
sia (PCH) presents studies mostly related to the neurological, ra-
diological, and genetic evaluation of the condition, generally de-
scribing anatomical measurements, mutations [1-10], and general
characteristics of the different PCH subtypes [1-13]. Many of these
refer to clinical case studies [1,8-11].
In the present case, the clinical picture and the progression of the
symptoms indicate the possibility of PCH11. This suggests the
need for a genetic examination; however, the family is yet to ac-
complish this. Rudnik-Schonebom et al. [2] stated that the differ-
ential diagnosis of PCH is a challenge, considering its early onset
and unspecific clinical presentations. Rüsch et al. [5] showed that a
systematic analysis of images and clinical characteristics could aid
in the differential diagnosis.
Van Dijk et al. [6] revealed that new genes and phenotypes relat-
ed to PCH have been described through the use of state-of-the-art
sequencing techniques, and that the classification of the types pre-
sented in literature is still confusing, given the heterogeneity of the
disorder. They reported that there exist several patients with PCH,
who do not possess mutations in any of the genes related toPCH.
There are clear descriptions regarding the disease progression of
the different PCH types in literature [1-12], except for PCH8 and
PCH11. According to the articles compiled [1-9], the manifesta-
tions in the linguistic and communicative cognitive areas that are
commonly reported involve phenotypes associated with cognitive
and behavioral changes, in addition to delays in and/or loss of mo-
tor skills, as well as difficulties in maintaining therapeutic gains,
given the progressive nature of thedisorder.
4. Volume 4 Issue 8-2020 ResearchArticle
http://www.acmcasereport.com/ 4
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