Mnemonics biochemistry 1
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This document provides lists of medical terminology organized by categories including: amino acids and their properties; the urea cycle; the TCA cycle; blotting procedures; X-linked recessive disorders; trinucleotide repeat expansion diseases; 22q11 deletion syndromes; reactions requiring vitamins B1 and biotin; metabolic processes in both cytosol and mitochondria; effects of infant deprivation; criteria for manic episodes and major depressive disorder; risk factors for suicide; criteria for panic disorder; clusters of personality disorders; and normal ranges of white blood cell types.
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Mnemonics biochemistry
RNA polymerase I, II, and III are responsible for transcribing rRNA, mRNA, and tRNA respectively. The three stop codons are UGA, UAA, and UAG. The Golgi apparatus functions in sulfation of sugars, proteoglycan assembly, distribution of proteins and lipids, and modification of proteins through addition of sugars. Collagen types include those found in bone, cartilage, reticulin, basement membrane, and type X in the epiphyseal plate. S-adenosylmethionine is the main methyl donor in the body. The TCA cycle intermediates starting from citrate are citrate, isocitrate, alpha-ketoglutarate, succinyl
Mnemonics biochemistry lipids
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Mnemonics biochemistry carbohydrates
The document provides information on various topics in biochemistry including glycogen storage diseases, glycolysis steps, the phosphorylation cascade, citric acid cycle compounds, dicarboxylic acids, galactosaemia, signs of hyperglycemia, collagen, G6PD deficiency, carbon monoxide's target in the electron transport chain, rotenone's site of action, and the malate-aspartate shuttle. Mnemonic devices are provided to help remember many of these terms and concepts.
Facial nerve
The facial nerve is a mixed nerve that controls muscles of facial expression and sensation. It has motor, sensory, and parasympathetic components. The motor component innervates muscles of the face and head. The sensory component conveys taste from the tongue and sensation from the ear. The parasympathetic component regulates salivary and tear glands. Examination of the facial nerve tests motor function by asking the patient to move facial muscles, sensory function by testing taste and ear sensation, and secretory function by measuring tear and saliva levels.
Hemoglobinopathies
Hemoglobinopathies are disorders that affect the structure, function, or production of hemoglobin. The document discusses normal hemoglobin structure and composition, the genes that encode the globin chains, fetal hemoglobin development, classification of hemoglobinopathies including structural abnormalities and thalassemias, and details on sickle cell disease which results from a single nucleotide change causing valine to replace glutamic acid in the beta globin chain.
Formation and fate of ammonia
1. Ammonia is formed through the deamination of amino acids like glutamic acid and glutamine in the liver and kidneys. Intestinal bacteria also produce ammonia through protein breakdown.
2. Ammonia is used to form non-essential amino acids through transamination reactions or is incorporated into glutamine.
3. Most ammonia is detoxified in the liver by being converted to urea through the urea cycle.
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RNA polymerase I, II, and III are responsible for transcribing rRNA, mRNA, and tRNA respectively. The three stop codons are UGA, UAA, and UAG. The Golgi apparatus functions in sulfation of sugars, proteoglycan assembly, distribution of proteins and lipids, and modification of proteins through addition of sugars. Collagen types include those found in bone, cartilage, reticulin, basement membrane, and type X in the epiphyseal plate. S-adenosylmethionine is the main methyl donor in the body. The TCA cycle intermediates starting from citrate are citrate, isocitrate, alpha-ketoglutarate, succinyl
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Facial nerve
The facial nerve is a mixed nerve that controls muscles of facial expression and sensation. It has motor, sensory, and parasympathetic components. The motor component innervates muscles of the face and head. The sensory component conveys taste from the tongue and sensation from the ear. The parasympathetic component regulates salivary and tear glands. Examination of the facial nerve tests motor function by asking the patient to move facial muscles, sensory function by testing taste and ear sensation, and secretory function by measuring tear and saliva levels.
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The document provides information about examining the thyroid gland, including:
1) The anatomy, physiology, common conditions like goiter, and presenting complaints are outlined.
2) The examination involves inspection of the neck, hands, eyes, and face, as well as palpation of the thyroid gland and lymph nodes, percussion of the sternum, and auscultation of the thyroid.
3) Special tests like assessing reflexes and proximal muscle strength are also described. A checklist is provided to ensure all relevant assessment steps are completed systematically.
Urethral catheterization
This document provides information about urethral catheterization, including indications, contraindications, complications, types of catheters, and procedures. It indicates that urethral catheterization is used to drain the bladder, monitor output, obtain urine samples, and for diagnostic studies. Contraindications include traumatic urethral injury. Complications can include trauma, false passages, hematuria, and urinary tract infections. The procedure involves preparing equipment, positioning the patient, cleaning the genital area, inserting a lubricated catheter into the urethra, inflating the balloon, attaching the catheter bag, and recording output. Difficult catheterizations may be due to strictures, sphincters,
Renal, repro, GIT hormones, diseases, mnemonics
This document provides summaries of key medical topics in 3 sentences or less. It summarizes information on progesterone and its roles in pregnancy, estrogen functions, features of nephritic syndrome, risk factors for endometrial carcinoma, extraintestinal manifestations of inflammatory bowel disease, consequences of chronic renal failure, hallmarks of nephrotic syndrome, causes of pancreatitis and renal failure, types of kidney stones and gallstones, features of ulcerative colitis, morphology and presentation of polycystic ovary syndrome, and findings associated with phenylketonuria.
Admission updates for MBBS in Sindh Medical College
This notice provides information about admissions for the MBBS program at Sindh Medical College for the 2015-2016 year. Application forms will be available in September 2015 at several branches of Habib Bank Limited, with a fee of Rs. 1000. A processing fee of Rs. 1500 must also be paid. The eligibility criteria for different categories are outlined. An entrance exam will be held on October 18th and will cover biology, chemistry, physics, and English. Required documents for application include academic transcripts and certificates, identification documents, and residence proofs.
51 pharmacologylecture outlines week 07 blood module sem i mbbs 2013 14
This document outlines lectures for a pharmacology module on blood and related topics. Lecture 1 discusses second-line antituberculosis drugs, including their mechanisms of action and adverse effects. Lecture 2 covers antihistamines, including what causes allergies, the structure and synthesis of histamine, antihistamine receptors and classes, and the adverse effects of antihistamines. Lecture 3 defines immunomodulants and classifies immunostimulant drugs. Lecture 4 discusses immunosuppressants, including glucocorticoids, drugs interfering with lymphocyte proliferation, TNF-α binding drugs, and immunosuppressive antibodies. Lectures 5 and 7 cover antiviral and antiretroviral
48 pharmacology lecture outlines week 06 blood module sem i mbbs 2013-14
This document contains summaries of multiple pharmacology lectures on antimicrobial drugs and anti-tuberculosis agents. Lecture 1 discusses quinolones, how they are classified, their pharmacodynamics, pharmacokinetics, and clinical uses. Lecture 2 covers macrolides antibiotics, including their chemical structure, classification, FDA-approved drugs, spectrum of activity, mechanisms of action, resistance, pharmacokinetics, clinical uses, and adverse drug reactions. Lecture 3 describes the mechanisms of action, uses, and adverse effects of second-line anti-tuberculosis drugs.
44 objectives fm - water - p h
This lecture aims to teach students about water distribution and buffers in the body. It will provide an overview of water and electrolytes, explain how water acts as an ideal solvent, define pH and discuss hydrogen ion production. It will emphasize the importance of maintaining body fluid pH, define buffers, explain how they work, identify bicarbonate as the major buffer and discuss clinical states when pH is disturbed.
43 objectives fm - role of vitamin & minerals
This document provides an overview of the roles of vitamins and minerals in biochemical functions. It discusses the classifications of vitamins as water-soluble or fat-soluble, the functions of minerals as cofactors with enzymes, and the roles of vitamins like B and C and fat-soluble vitamins in different metabolic processes. The learning objectives also mention identifying major nutritional disorders related to vitamins and minerals.
41 objectives fm - nutrition
This document provides an introduction to biochemical aspects of diet and nutrition. It outlines learning objectives to study, understand and elaborate on the chemistry, functions and importance of nutrients; metabolic and physiological responses of the body to diet; diseases due to nutritional deficiency; and prevention and management of diseases due to nutritional deficiency.
40 objectives fm - nucleic acids
This document outlines the lecture objectives for a module on nucleic acids. It aims to teach students about the structure and types of nucleotides, the differences between purines and pyrimidines, and the most abundant nucleotides in nucleic acids. Additionally, it covers the chemistry of DNA and RNA, including defining nucleic acids, discussing their structures and the difference between DNA and RNA, and explaining how the central dogma relates to the living state.
39 objectives fm - genetics
This document outlines the learning objectives for a lecture series on genetics and related topics. It covers 7 main sections: 1) Replication of DNA, 2) DNA Damage and Repair, 3) Transcription, 4) Post Transcriptional Modification, 5) Translation & Post Translation Modification, 6) Control of Gene Expression, and 7) Recombinant DNA Technology. The objectives describe key concepts students should understand in each area, such as how DNA is replicated, the causes and consequences of DNA damage, the process of transcription, post-transcriptional modifications, translation and protein synthesis, gene regulation, and applications of recombinant DNA technology.
38 objectives fm - cell membrane
This lecture aims to teach students about the structure and components of cell membranes. It will cover the fluid mosaic structure of membranes and describe the different types of membrane lipids, carbohydrates, and proteins. Students will learn the functions of cell membranes and why phospholipids are well-suited for membrane structure. Finally, the lecture will provide fundamentals of membrane transport.
37 objectives fm - aa
This document outlines the lecture objectives for a foundation module on amino acids and peptides. The objectives include defining amino acids, classifying them by nutrition, R group, and solubility. It also covers explaining peptide bond formation, justifying the directionality of peptide bonds, defining peptides, enumerating biologically important peptides, and explaining their functions.
36 objectives b12-folic
This lecture objectives document outlines that students will be able to describe the chemical nature, dietary sources, recommended daily amounts, absorption, biochemical roles, and deficiency states of Vitamin B12 and Folic Acid. Students will also be able to differentiate between Pernicious anaemia caused by Vitamin B12 deficiency versus megaloblastic anaemia caused by a folate deficiency.
33 lec aminoacid peptide biological importance
Amino acids are the building blocks of proteins and peptides. They contain non-polar, polar, and charged R groups. Peptides are formed through condensation reactions between amino acids, linking them through peptide bonds. There are four levels of protein structure - primary, secondary, tertiary, and quaternary. The secondary structure involves folding into alpha helices or beta sheets. The alpha helix is stabilized by hydrogen bonds between residues four places apart in the sequence. Tertiary structure describes the three-dimensional folding of the polypeptide chain. Quaternary structure involves the interaction of multiple polypeptide chains in a protein.
28 vit k
Vitamin K exists in two naturally occurring forms, K1 and K2. It plays an essential role in blood clotting by allowing the conversion of prothrombin to thrombin through γ-carboxyglutamic acid residues on prothrombin that can bind calcium. Vitamin K is a cofactor for the enzyme γ-glutamyl carboxylase, which mediates the carboxylation of glutamate to γ-carboxyglutamate in clotting factors and osteocalcin. Vitamin K deficiency is rare in adults but dangerous in newborns, while the drug warfarin is an antagonist that blocks the activation and recycling of vitamin K to inhibit coagulation and bone mineralization
27 thalassemias
This document provides an overview of enzymes. It states that enzymes are proteins with catalytic properties due to their ability to specifically activate biological reactions. It notes that enzymes are responsible for metabolic processes in living organisms.
26 porphyria
The document discusses enzymes and porphyrias. It begins by defining enzymes as proteins with catalytic properties. It then provides objectives about understanding heme structure, identifying rate-limiting steps and effects of drugs in heme biosynthesis. The rest of the document details heme synthesis, the pathway of porphyrin synthesis, different types of porphyrias caused by deficiencies in specific enzymes in this pathway, and their associated symptoms. It highlights that porphyrias can be acquired from lead toxicity or inherited congenital disorders.
25 objectives
This document outlines the topics and learning objectives for a series of lectures on the blood module and inflammation and neoplasia module. The lectures will cover the composition of plasma and plasma proteins, the structure and synthesis of heme, abnormalities in heme synthesis including porphyrias, iron metabolism, heme degradation, hyperbilirubinemia and jaundice, variants of hemoglobin and hemoglobinopathies, thalassemia syndrome, and vitamin K. The lectures aim to provide students with an understanding of the structure and function of components of blood, abnormalities in blood and their clinical significance.
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Surgical Instruments in Gynaecology and Obstetrics by Dr UAK
Surgical Instruments in Gynaecology and Obstetrics by Dr UAK
Admission updates for MBBS in Sindh Medical College
Admission updates for MBBS in Sindh Medical College
51 pharmacologylecture outlines week 07 blood module sem i mbbs 2013 14
51 pharmacologylecture outlines week 07 blood module sem i mbbs 2013 14
48 pharmacology lecture outlines week 06 blood module sem i mbbs 2013-14
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Breast cancer: Post menopausal endocrine therapy
Breast cancer in postmenopausal women with hormone receptor-positive (HR+) status is a common and complex condition that necessitates a multifaceted approach to management. HR+ breast cancer means that the cancer cells grow in response to hormones such as estrogen and progesterone. This subtype is prevalent among postmenopausal women and typically exhibits a more indolent course compared to other forms of breast cancer, which allows for a variety of treatment options.
Diagnosis and Staging
The diagnosis of HR+ breast cancer begins with clinical evaluation, imaging, and biopsy. Imaging modalities such as mammography, ultrasound, and MRI help in assessing the extent of the disease. Histopathological examination and immunohistochemical staining of the biopsy sample confirm the diagnosis and hormone receptor status by identifying the presence of estrogen receptors (ER) and progesterone receptors (PR) on the tumor cells.
Staging involves determining the size of the tumor (T), the involvement of regional lymph nodes (N), and the presence of distant metastasis (M). The American Joint Committee on Cancer (AJCC) staging system is commonly used. Accurate staging is critical as it guides treatment decisions.
Treatment Options
Endocrine Therapy
Endocrine therapy is the cornerstone of treatment for HR+ breast cancer in postmenopausal women. The primary goal is to reduce the levels of estrogen or block its effects on cancer cells. Commonly used agents include:
Selective Estrogen Receptor Modulators (SERMs): Tamoxifen is a SERM that binds to estrogen receptors, blocking estrogen from stimulating breast cancer cells. It is effective but may have side effects such as increased risk of endometrial cancer and thromboembolic events.
Aromatase Inhibitors (AIs): These drugs, including anastrozole, letrozole, and exemestane, lower estrogen levels by inhibiting the aromatase enzyme, which converts androgens to estrogen in peripheral tissues. AIs are generally preferred in postmenopausal women due to their efficacy and safety profile compared to tamoxifen.
Selective Estrogen Receptor Downregulators (SERDs): Fulvestrant is a SERD that degrades estrogen receptors and is used in cases where resistance to other endocrine therapies develops.
Combination Therapies
Combining endocrine therapy with other treatments enhances efficacy. Examples include:
Endocrine Therapy with CDK4/6 Inhibitors: Palbociclib, ribociclib, and abemaciclib are CDK4/6 inhibitors that, when combined with endocrine therapy, significantly improve progression-free survival in advanced HR+ breast cancer.
Endocrine Therapy with mTOR Inhibitors: Everolimus, an mTOR inhibitor, can be added to endocrine therapy for patients who have developed resistance to aromatase inhibitors.
Chemotherapy
Chemotherapy is generally reserved for patients with high-risk features, such as large tumor size, high-grade histology, or extensive lymph node involvement. Regimens often include anthracyclines and taxanes.
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Congestive Heart failure is caused by low cardiac output and high sympathetic discharge. Diuretics reduce preload, ACE inhibitors lower afterload, beta blockers reduce sympathetic activity, and digitalis has inotropic effects. Newer medications target vasodilation and myosin activation to improve heart efficiency while lowering energy requirements. Combination therapy, following an assessment of cardiac function and volume status, is the most effective strategy to heart failure care.
Patellar Instability: Diagnosis Management
Pictorial and detailed description of patellar instability with sign and symptoms and how to diagnose , what investigations you should go with and how to approach with treatment options . I have presented this slide in my 2nd year junior residency in orthopedics at LLRM medical college Meerut and got good reviews for it
After getting it read you will definitely understand the topic.
biomechanics of running. Dr.dhwani.pptx
The biomechanics of running involves the study of the mechanical principles underlying running movements. It includes the analysis of the running gait cycle, which consists of the stance phase (foot contact to push-off) and the swing phase (foot lift-off to next contact). Key aspects include kinematics (joint angles and movements, stride length and frequency) and kinetics (forces involved in running, including ground reaction and muscle forces). Understanding these factors helps in improving running performance, optimizing technique, and preventing injuries.
Storyboard on Acne-Innovative Learning-M. pharm. (2nd sem.) Cosmetics
Acne is a common skin condition that occurs when hair follicles become clogged with oil and dead skin cells. It typically manifests as pimples, blackheads, or whiteheads, often on the face, chest, shoulders, or back. Acne can range from mild to severe and may cause emotional distress and scarring in some cases.
**Causes:**
1. **Excess Oil Production:** Hormonal changes during adolescence or certain times in adulthood can increase sebum (oil) production, leading to clogged pores.
2. **Clogged Pores:** When dead skin cells and oil block hair follicles, bacteria (usually Propionibacterium acnes) can thrive, causing inflammation and acne lesions.
3. **Hormonal Factors:** Fluctuations in hormone levels, such as during puberty, menstrual cycles, pregnancy, or certain medical conditions, can contribute to acne.
4. **Genetics:** A family history of acne can increase the likelihood of developing the condition.
**Types of Acne:**
- **Whiteheads:** Closed plugged pores.
- **Blackheads:** Open plugged pores with a dark surface.
- **Papules:** Small red, tender bumps.
- **Pustules:** Pimples with pus at their tips.
- **Nodules:** Large, solid, painful lumps beneath the surface.
- **Cysts:** Painful, pus-filled lumps beneath the surface that can cause scarring.
**Treatment:**
Treatment depends on the severity and type of acne but may include:
- **Topical Treatments:** Such as benzoyl peroxide, salicylic acid, or retinoids to reduce bacteria and unclog pores.
- **Oral Medications:** Antibiotics or oral contraceptives for hormonal acne.
- **Procedures:** Such as chemical peels, extraction of comedones, or light therapy for more severe cases.
**Prevention and Management:**
- **Cleanse:** Regularly wash skin with a gentle cleanser.
- **Moisturize:** Use non-comedogenic moisturizers to keep skin hydrated without clogging pores.
- **Avoid Irritants:** Such as harsh cosmetics or excessive scrubbing.
- **Sun Protection:** Use sunscreen to prevent exacerbation of acne scars and inflammation.
Acne treatment can take time, and consistency in skincare routines and treatments is crucial. Consulting a dermatologist can help tailor a treatment plan that suits individual needs and reduces the risk of scarring or long-term skin damage.
ENVIRONMENTAL SANITATION in community setting
“Environmental sanitation means the art and science of applying sanitary, biological and physical science principles and knowledge to improve and control the environment therein for the protection of the health and welfare of the public”.The overall importance of sanitation are to provide a healthy living environment for everyone, to protect the natural resources (such as surface water, groundwater, soil ), and to provide safety, security and dignity for people when they defecate or urinate .Sanitation refers to public health conditions such as drinking clean water, sewage treatment, etc. All the effective tools and actions that help in keeping the environment clean come under sanitation. Sanitation refers to public health conditions such as drinking clean water, sewage treatment. All the effective tools and actions that help in keeping the environment clean and promotes public health is the necessary in todays life.
PGx Analysis in VarSeq: A User’s Perspective
Since our release of the PGx capabilities in VarSeq, we’ve had a few months to gather some insights from various use cases. Some users approach PGx workflows by means of array genotyping or what seems to be a growing trend of adding the star allele calling to the existing NGS pipeline for whole genome data. Luckily, both approaches are supported with the VarSeq software platform. The genotyping method being used will also dictate what the scope of the tertiary analysis will be. For example, are your PGx reports a standalone pipeline or would your lab’s goal be to handle a dual-purpose workflow and report on PGx + Diagnostic findings.
The purpose of this webcast is to:
Discuss and demonstrate the approaches with array and NGS genotyping methods for star allele calling to prep for downstream analysis.
Following genotyping, explore alternative tertiary workflow concepts in VarSeq to handle PGx reporting.
Moreover, we will include insights users will need to consider when validating their PGx workflow for all possible star alleles and options you have for automating your PGx analysis for large number of samples. Please join us for a session dedicated to the application of star allele genotyping and subsequent PGx workflows in our VarSeq software.
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Allopurinol, a uric acid synthesis inhibitor acts by inhibiting Xanthine oxidase competitively as well as non- competitively, Whereas Oxypurinol is a non-competitive inhibitor of xanthine oxidase.
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Giloy, also known as Guduchi or Amrita in classical Ayurvedic texts, is a revered herb renowned for its myriad health benefits. It is categorized as a Rasayana, meaning it has rejuvenating properties that enhance vitality and longevity. Giloy is celebrated for its ability to boost the immune system, detoxify the body, and promote overall wellness. Its anti-inflammatory, antipyretic, and antioxidant properties make it a staple in managing conditions like fever, diabetes, and stress. The versatility and efficacy of Giloy in supporting health naturally highlight its importance in Ayurveda. At Planet Ayurveda, we provide a comprehensive range of health services and 100% herbal supplements that harness the power of natural ingredients like Giloy. Our products are globally available and affordable, ensuring that everyone can benefit from the ancient wisdom of Ayurveda. If you or your loved ones are dealing with health issues, contact Planet Ayurveda at 01725214040 to book an online video consultation with our professional doctors. Let us help you achieve optimal health and wellness naturally.
Storyboard on Skin- Innovative Learning (M-pharm) 2nd sem. (Cosmetics)
Skin is the largest organ of the human body, serving crucial functions that include protection, sensation, regulation, and synthesis. Structurally, it consists of three main layers: the epidermis, dermis, and hypodermis (subcutaneous layer).
1. **Epidermis**: The outermost layer primarily composed of epithelial cells called keratinocytes. It provides a protective barrier against environmental factors, pathogens, and UV radiation.
2. **Dermis**: Located beneath the epidermis, the dermis contains connective tissue, blood vessels, hair follicles, and sweat glands. It plays a vital role in supporting and nourishing the epidermis, regulating body temperature, and housing sensory receptors for touch, pressure, temperature, and pain.
3. **Hypodermis**: Also known as the subcutaneous layer, it consists of fat and connective tissue that anchors the skin to underlying structures like muscles and bones. It provides insulation, cushioning, and energy storage.
Skin performs essential functions such as regulating body temperature through sweat production and blood flow control, synthesizing vitamin D when exposed to sunlight, and serving as a sensory interface with the external environment.
Maintaining skin health is crucial for overall well-being, involving proper hygiene, hydration, protection from sun exposure, and avoiding harmful substances. Skin conditions and diseases range from minor irritations to chronic disorders, emphasizing the importance of regular care and medical attention when needed.
Hemodialysis: Chapter 6, Hemodialysis Adequacy and Dose - Dr.Gawad
- Video recording of this lecture in English language: https://youtu.be/RvdYsTzgQq8
- Video recording of this lecture in Arabic language: https://youtu.be/ECILGWtgZko
- Link to download the book free: https://nephrotube.blogspot.com/p/nephrotube-nephrology-books.html
- Link to NephroTube website: www.NephroTube.com
- Link to NephroTube social media accounts: https://nephrotube.blogspot.com/p/join-nephrotube-on-social-media.html
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Mnemonics biochemistry 1
- 1. Glucogenic amino acids "HAVe Money" His Arg Val Met Glucogenic/ketogenic amino acids "TTIP" Thr Trp Phe Ile Ketogenic amino acids "LL" Lys Leu Amino acids w/ 3 titratable protons "Acidic, Basic, Cys, Tyr" Acidic = Asp, Glu Basic = Arg, Lys, His Dibasic amino acids "COAL" Cys Orn Arg Lys Urea cycle "Ordinarily, Careless Crappers Are Also Frivolous About Urination" Ornithine + Carbamoyl Phosphate → Citrulline...+Aspartate → Arginosuccinate → Fumarate + Arginine → Urea NADH production in TCA "KIM likes goNADs" After... α-ketoglutarate Isocitrate Malate TCA cycles "Can I Keep Selling Sex For Money, Officer?" Citrate Isocitrate α-KG Succinate Succinyl-CoA Fumarate
- 2. Malate Oxaloacetate Blotting procedures "SNoW DRoP" Southern = DNA Northern = RNA Western = Protein SouthWestern= DNA-binding Proteins X-linked Recessive Disorders "Be Wise, Fool's GOLD Heeds Silly Hope, Alport" Bruton's agammaglobulinemia Wiskott-Aldrich Syndrome Fabry's Disease G6PD deficiency Ocular albinism/Ornithine transcaramylase deficiency Lesch-Nyhan Syndrome Duchenne's and Becker's muscular dystrophy Hunter's Syndrome Hemophilia A and B Alport syndrome Trinucleotide repeat expansion diseases "X-Girlfirend's First Aid Helped Ace My Test" Fragile X = CGG (chrX) Freidrich's ataxia = GAA (chr9) Huntington's = CAG (chr4) Myotonic dystrophy = CTG (chr 19) 22q11 deletion syndromes "CATCH 22" Cleft palate Abnormal facies Thymic aplasia Cardiac defects Hypocalemia (2° to PTH aplasia) 22q11 *CAC = velocardialfacial syndrome *TCH = DiGeorge syndrome Reactions requiring VitB1 "Vitamin B1 helps make ATP" Branched-chain AA dehydrogenase α-ketoglutarate dehydrogenase (TCA) Transketolase (HMP shunt) Pyruvate dehydrogenase (glycolysis) Reactions requiring biotin
- 3. "PAP carboxylation" Pyruvate carboxylase (gluconeogenesis via oxaloacetate) Acetyl-CoA carboxylase (FA synthesis via malonyl-CoA) Propionyl-CoA carboxylase (odd-chain FA & branched AA to TCA via methylmalonyl-CoA) Metabolic processes occurring in both cytosol & mitochondria "HUGs take 2" Heme synthesis Urea cycle Gluconeogenesis Infant deprivation effects 4 W's: "Weak, Wordless, Wanting, Wary" Weak: weight loss, ↓muscle tone, physical illness Wordless: poor language skills Wanting: anaclitic depression, poor socialization Wary: no basic trust Manic episode "DIGFAST" (≥3) Distractibility Irresponsible behavior Grandiosity Flight of ideas Agitation/↑Activity ↓Sleep Talkativeness/pressured speech Major depressive disorder "DSIGECAPS" (≥5, one of which must be anhedonia or depressed mood) Depressed mood Sleep disturbances ↓Interest (anhedonia) Guilt/feelings or worthlessness ↓Energy ↓Concentration ↓Appetite/weight changes Psychomotor retardation or agitation Suicidal ideations Risk factors for suicide completion "SAD PERSONS" Sex (male) Age (teenager, elderly) Depression Previous attempts EtOH iRRational thinking Sickness
- 4. Organized plan No spouse (lack of) Social support Panic disorder "PPANIICS" Palpitations, Paresthesias Abdominal distress Nausea Intense fear of dying/losing control, lIight headeedness Chills, choking, disConnectedness Sweating, Shaking, SOB Personality disorders "Weird, Wild, Worried" Cluster A = paranoid, schizoid, schizotypal Cluster B = antisocial, borderline, histrionic, narcissitic Cluster C = avoidant, obsessive-compulsive, dependent Cluster A personality disorders "Weird: Accusatory, Aloof, Awkward" Paranoid = accusatory Schizoid = alood Schizotypal = awkward Cluster C personality disorders "Worried: Cowardly, Compulsive, Clingy" Avoidant = cowardly Compulsive = obsessive-compulsive Dependent = clingy X-linked recessive disorders "Be Wise, Fool's GOLD Heeds Silly Hope" Bruton's agammaglobulinemia Wiskott-Aldrich syndrome Fabry's disase G6PD deficiency OTC deficiency/Ocular albinism Lesch-Nyhan syndrome Duchenne's & Becker's muscular dystrophy Hunter's Syndrome Hemophilia A & B WBC prevalence "Neutrophils like making everything better" Neutrophils = 40-60% Lymphocytes = 20-40% Monocytes = 2-8% Eosinophils = 1-4% Basophils 0.5-1%