(On Thursday of March 23, 2023). On the Matter of Case Study 43 of a Twelve Month Male Pediatric Subject and Clinical Question of Parents of "Why isn't my Child Gaining Weigtht?": 1) Vitals: 1) BP 92/60; 2) HR 112 BPM; 3) RR 38 BPM; 4) T 98.0 Degrees Fahrenheit; 5) Sat 100% RA; 6) Where Normal Vital Ranges for Age 1 Month to 1 Year follows: 1) BP Systolic 80-100; Diastolic 55-65 mmHg; 2) HR 100-150 BPM; 3) RR 30-55 RPM; 4) T 96.8 to 100.3 Degrees Fahrenheit (Rectal Locus, Axilla, Middle Ear Possible); 2) SSx are FTT in a 12 Month Old White Male with Parents; 2) Mother Claims The Patients Appetite is Well and Somewhat Concerning; 3) "Slimy" Stools otherwise Abnormal Feces; 3) Obstetrics/Gynecology: 1) Term Birth at 8 Pounds and 10 Ounces (3.91 kg); 2) Apgar Scores of 7 and 9; 3) Uncomplicated Birth; 4) Obstetrical History is Uncomplicated and Milestones at Normal Entrance; 5) Medical History: Two Siblings (Females); 1) Postnatal Review Show the Obstetrical Failure to Pass Meconium (> than 24 Hours is abnormal); 5) Growth Charts Tracking has the Patient at 29th (Twenty-Pounds Currently) and 19th Percentiles for Weight and Length. However, the Standard Growth Pattern of a Pediatric at this Age has Him at Failure To Thrive (FTT), for at One Year (12 Months) He should have Tripled his Birth Weight; 6) Medications are Negative So Far; 7) Physical Examination (Px): 1) General is NAD; 2) Lymph Nodes are Negative; 3) HEENT is Atraumatic Normocephalic, PERRLA, Absent Conjunctival Pallor or Swelling, Clear Auditory Canal, Normal TM, Normal Mucosa (Pharynx and Buccal), and Supple Neck; 4) Chest/Lungs are marked by Scattered Crackles and Wheezes (Laboratory Investigations Herein); 5) CV is RRR and Absent Murmurs; 6) Abdomen is NT/ND, NBS, and Organomegaly Negative; 7) Genitals are Descended and Normal Volume Bilaterally; 8) Extremities are Full ROM, Cyanosis Negative, Digital Clubbing Negative, Edema No Present, Symmetrical Pulses, and Proportionate Extremities; 9) Neurological Assessment is Grossly Non-Focal; 8) Differential Diagnosis (DDx): 1) Cystic Fibrosis (Autosomal Recessive Congenital Gene Variation [CFTR Gene and Protein]); 2) Celiac Disease (Gluten- Hypersensitivity); 3) Primary Biliary Dyskinesia is a Motility Functional Disorder (Primary Biliary Cholangiitis). Pain in the Upper Right Abdomen, Post-Prandial Pain, Intolerance of Fatty Foods, Nausea, and Vomiting. Dx is Clinical (Criteria Therein) and Imaging via Ultrasound; Tx is Cholecystectomy (80% Have Symptoms Appeased); 4) Shwachman-Diamond Syndrome (SDS) is Second Most Common Genetic Aetiology of Pediatrics of Exocrine Pancreatic Insufficiency (AR with SDBS Gene Variation on 7p11 Variation). Bone Marrow Failure with Neutropenia, Pancreas (Exocrine Pars), and Skeletal System Manifestations. SSx Hypotonia, Anemia and Steatorrhea/Malabsorption; Dx: 1) CBC with Neutropenia; 2) Gene Testing; Tx can Entail BMT and Pancreatic Enzyme Replacement; 5) Bronchiolitis is Infection/Inflammation of the Bronchioles with Dyspnea and Dry Cough Wheezing. Ax is Viral Causation Usually; 6) Asthma has Wheezing, Breathlessness, Chest Tightness, and Nocturnal/Matutine Coughing and/or Inspiratory Stridor; Dx: 1) Clinical; 2) Spirometry; 3) If Unclear, Methacholine Challenge Test; Tx via Inhaled/Nebulized Beta-2 Agonists; 2) Inhaled Corticosteroids; 3) Long-Acting Beta-2 Agonists; 4) A Vast Array of Biologics are Also Available; 5) When Symptoms Persist, Bronchial Thermoplasty is Possible; 9) Diagnosis (Dx): 1) Complete Blood Counts (CBC), and Herein are WNLs; 2) Basic Metabolic Panel (BMP) and Herein are WNLs; 3) Chest X-Ray Imaging, and Herein is Unremarkable; 4) Fecal Fat Test (Steatorrhea), and Herein is Positive (Malabsorption Pathology Identified); 5) Sweat Chloride Test (Standard Diagnostic Pre-Genetic Testing Modality) and Herein is 79 mEq/L (An Elevated Positive Finding). However, the Confirmation of CF is Via Gene Testing (CFTR Gene Variation [Five Known Variations Therein]) and Most Common Pancreatic (Malabsorption) Insufficiency Genetic Aetiology in Pediatrics; 6) Therefore, Cystic Fibrosis (CF) with Secondary Failure To Thrive (FTT); 10) Management (Mx): 1) Supportive/Symptomatic Treatment; 2) Pancreatic Enzyme Replacement (Pancrelipase); 3) Fat-Soluble Vitamin Replacement (A,D,E,and K); 4) Counsel Parents and Patient; 5) Repeat Sweat Chloride Test; 6) Genetic Testing (CFTR Gene and Variation Therein) allows Better, Thorough Treatment; and 7) Referral to Cystic Fibrosis Care Center; 11) Pathology of Cystic Fibrosis is an Autosomal Recessive Congenital Metabolic Disorder within the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene and Protein, Defect Within the Transmembrane Chloride Channel, A Protein Deficiency and Defect Therein (Type I-V), in Mucus Biosynthetic Cells, Sweat-Secreting Cells, and Digestive Exocrine Cells of Pancreas within Multiple Organs. Most Noticeably are the Lungs (Dyspnea and Pneumonia Complication) and Pancreas (Pancreatic Insufficiency), Liver, Kidneys, and Intestines, otherwise Mucoviscidosis is the overall Categorization of the Mucus Obstruction. SSx with the Two Organs: Lungs has Recurrent Infections (Pneumonia), Wheezing, Chronic Sinusitis, Nasal Polyps. Gastrointestinal: Malabsorption (Steatorrhea, Nutriopenia [ADEK Deficiency]), Exocrine Pancreatic Enzyme Deficiency, GERD, Pancreatitis, and Rectal Prolapse. When Prenatal or Obstetrical (Neonate Screenings) Diagnosis is Not Available, Parents describe Neonate/Infant as Salty (Sweat Sodium Chloride Effusion). Also, Failure to Pass Meconium (Neonates First Defecation) within 24 Hours, Hyperorexia (Voracious Appetite) with Weight Loss, FTT, Post-Prandial Bloating/Flatus, Frequent Pulmonary Infections, and Family History Possible. Treatment/Management will be Symptomatic where Routine Chest Physiotherapy, Mucolytics (Dornase Alpha), Inhaled Hypetonic Saline, Annual Influenza Prophylaxis (Vaccine), Inhaled Tobramycin Later On. 12) Complications (Cx): 1) Acute Pulmonary Exacerbations with Antibiotic Therapy (Aetiology And Culture and Sensitivity Dependent; Empiracal Antibiotics Are Broad-Spectrum Full-Headon Course), Steroids, and Albuterol (SABA); 2) Malabsorption is via Enzyme Replacement Therapy and Multivatimins with Enphasis on Fat-Soluble Vitamins (ADEK); 3) Mild Manifestations with PO Antibiotics (Amoxicillin/Clavulanate); Moderate to Severe Or Documented Pseudomonas aeruginosa Infection Prior with Tobramycin or Piperacillin/Tazobactam. For MRSA Tobramycin and Linezolid. Goodness, my First CF Case. Not Really, Just Kidding. The Endeavor used to Prognose Sadly but currently My Gene Editing Modality has Proved Loable: 1) Cationic Liposome Carrier (Nebulized), Plasmid with Wild-Type Optimus Gene (CFTR-Like), and all Freeee. MD Paul W. Bolin, es geht sehr gut zu vermehren Gesundheit mit Ihnen. Heil!
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(On Thursday of March 23, 2023). On the Matter of Case Study 43 of a Twelve Month Male Pediatric Subject and Clinical Question of Parents of "Why isn't my Child Gaining Weigtht?": 1) Vitals: 1) BP 92/60; 2) HR 112 BPM; 3) RR 38 BPM; 4) T 98.0 Degrees Fahrenheit; 5) Sat 100% RA; 6) Where Normal Vital Ranges for Age 1 Month to 1 Year follows: 1) BP Systolic 80-100; Diastolic 55-65 mmHg; 2) HR 100-150 BPM; 3) RR 30-55 RPM; 4) T 96.8 to 100.3 Degrees Fahrenheit (Rectal Locus, Axilla, Middle Ear Possible); 2) SSx are FTT in a 12 Month Old White Male with Parents; 2) Mother Claims The Patients Appetite is Well and Somewhat Concerning; 3) "Slimy" Stools otherwise Abnormal Feces; 3) Obstetrics/Gynecology: 1) Term Birth at 8 Pounds and 10 Ounces (3.91 kg); 2) Apgar Scores of 7 and 9; 3) Uncomplicated Birth; 4) Obstetrical History is Uncomplicated and Milestones at Normal Entrance; 5) Medical History: Two Siblings (Females); 1) Postnatal Review Show the Obstetrical Failure to Pass Meconium (> than 24 Hours is abnormal); 5) Growth Charts Tracking has the Patient at 29th (Twenty-Pounds Currently) and 19th Percentiles for Weight and Length. However, the Standard Growth Pattern of a Pediatric at this Age has Him at Failure To Thrive (FTT), for at One Year (12 Months) He should have Tripled his Birth Weight; 6) Medications are Negative So Far; 7) Physical Examination (Px): 1) General is NAD; 2) Lymph Nodes are Negative; 3) HEENT is Atraumatic Normocephalic, PERRLA, Absent Conjunctival Pallor or Swelling, Clear Auditory Canal, Normal TM, Normal Mucosa (Pharynx and Buccal), and Supple Neck; 4) Chest/Lungs are marked by Scattered Crackles and Wheezes (Laboratory Investigations Herein); 5) CV is RRR and Absent Murmurs; 6) Abdomen is NT/ND, NBS, and Organomegaly Negative; 7) Genitals are Descended and Normal Volume Bilaterally; 8) Extremities are Full ROM, Cyanosis Negative, Digital Clubbing Negative, Edema No Present, Symmetrical Pulses, and Proportionate Extremities; 9) Neurological Assessment is Grossly Non-Focal; 8) Differential Diagnosis (DDx): 1) Cystic Fibrosis (Autosomal Recessive Congenital Gene Variation [CFTR Gene and Protein]); 2) Celiac Disease (Gluten- Hypersensitivity); 3) Primary Biliary Dyskinesia is a Motility Functional Disorder (Primary Biliary Cholangiitis). Pain in the Upper Right Abdomen, Post-Prandial Pain, Intolerance of Fatty Foods, Nausea, and Vomiting. Dx is Clinical (Criteria Therein) and Imaging via Ultrasound; Tx is Cholecystectomy (80% Have Symptoms Appeased); 4) Shwachman-Diamond Syndrome (SDS) is Second Most Common Genetic Aetiology of Pediatrics of Exocrine Pancreatic Insufficiency (AR with SDBS Gene Variation on 7p11 Variation). Bone Marrow Failure with Neutropenia, Pancreas (Exocrine Pars), and Skeletal System Manifestations. SSx Hypotonia, Anemia and Steatorrhea/Malabsorption; Dx: 1) CBC with Neutropenia; 2) Gene Testing; Tx can Entail BMT and Pancreatic Enzyme Replacement; 5) Bronchiolitis is Infection/Inflammation of the Bronchioles with Dyspnea and Dry Cough Wheezing. Ax is Viral Causation Usually; 6) Asthma has Wheezing, Breathlessness, Chest Tightness, and Nocturnal/Matutine Coughing and/or Inspiratory Stridor; Dx: 1) Clinical; 2) Spirometry; 3) If Unclear, Methacholine Challenge Test; Tx via Inhaled/Nebulized Beta-2 Agonists; 2) Inhaled Corticosteroids; 3) Long-Acting Beta-2 Agonists; 4) A Vast Array of Biologics are Also Available; 5) When Symptoms Persist, Bronchial Thermoplasty is Possible; 9) Diagnosis (Dx): 1) Complete Blood Counts (CBC), and Herein are WNLs; 2) Basic Metabolic Panel (BMP) and Herein are WNLs; 3) Chest X-Ray Imaging, and Herein is Unremarkable; 4) Fecal Fat Test (Steatorrhea), and Herein is Positive (Malabsorption Pathology Identified); 5) Sweat Chloride Test (Standard Diagnostic Pre-Genetic Testing Modality) and Herein is 79 mEq/L (An Elevated Positive Finding). However, the Confirmation of CF is Via Gene Testing (CFTR Gene Variation [Five Known Variations Therein]) and Most Common Pancreatic (Malabsorption) Insufficiency Genetic Aetiology in Pediatrics; 6) Therefore, Cystic Fibrosis (CF) with Secondary Failure To Thrive (FTT); 10) Management (Mx): 1) Supportive/Symptomatic Treatment; 2) Pancreatic Enzyme Replacement (Pancrelipase); 3) Fat-Soluble Vitamin Replacement (A,D,E,and K); 4) Counsel Parents and Patient; 5) Repeat Sweat Chloride Test; 6) Genetic Testing (CFTR Gene and Variation Therein) allows Better, Thorough Treatment; and 7) Referral to Cystic Fibrosis Care Center; 11) Pathology of Cystic Fibrosis is an Autosomal Recessive Congenital Metabolic Disorder within the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene and Protein, Defect Within the Transmembrane Chloride Channel, A Protein Deficiency and Defect Therein (Type I-V), in Mucus Biosynthetic Cells, Sweat-Secreting Cells, and Digestive Exocrine Cells of Pancreas within Multiple Organs. Most Noticeably are the Lungs (Dyspnea and Pneumonia Complication) and Pancreas (Pancreatic Insufficiency), Liver, Kidneys, and Intestines, otherwise Mucoviscidosis is the overall Categorization of the Mucus Obstruction. SSx with the Two Organs: Lungs has Recurrent Infections (Pneumonia), Wheezing, Chronic Sinusitis, Nasal Polyps. Gastrointestinal: Malabsorption (Steatorrhea, Nutriopenia [ADEK Deficiency]), Exocrine Pancreatic Enzyme Deficiency, GERD, Pancreatitis, and Rectal Prolapse. When Prenatal or Obstetrical (Neonate Screenings) Diagnosis is Not Available, Parents describe Neonate/Infant as Salty (Sweat Sodium Chloride Effusion). Also, Failure to Pass Meconium (Neonates First Defecation) within 24 Hours, Hyperorexia (Voracious Appetite) with Weight Loss, FTT, Post-Prandial Bloating/Flatus, Frequent Pulmonary Infections, and Family History Possible. Treatment/Management will be Symptomatic where Routine Chest Physiotherapy, Mucolytics (Dornase Alpha), Inhaled Hypetonic Saline, Annual Influenza Prophylaxis (Vaccine), Inhaled Tobramycin Later On. 12) Complications (Cx): 1) Acute Pulmonary Exacerbations with Antibiotic Therapy (Aetiology And Culture and Sensitivity Dependent; Empiracal Antibiotics Are Broad-Spectrum Full-Headon Course), Steroids, and Albuterol (SABA); 2) Malabsorption is via Enzyme Replacement Therapy and Multivatimins with Enphasis on Fat-Soluble Vitamins (ADEK); 3) Mild Manifestations with PO Antibiotics (Amoxicillin/Clavulanate); Moderate to Severe Or Documented Pseudomonas aeruginosa Infection Prior with Tobramycin or Piperacillin/Tazobactam. For MRSA Tobramycin and Linezolid. Goodness, my First CF Case. Not Really, Just Kidding. The Endeavor used to Prognose Sadly but currently My Gene Editing Modality has Proved Loable: 1) Cationic Liposome Carrier (Nebulized), Plasmid with Wild-Type Optimus Gene (CFTR-Like), and all Freeee. MD Paul W. Bolin, es geht sehr gut zu vermehren Gesundheit mit Ihnen. Heil!