Keterangan
Neonatal congenital anomalies, also known as birth defects, are structural or functional abnormalities present at birth. They can affect various organ systems and can range from mild to severe. These anomalies can affect any part of the body, including organs, limbs, and systems. They may arise due to genetic factors, environmental influences, or a combination of both. Some common types of neonatal congenital anomalies include heart defects, cleft lip or palate, neural tube defects, and limb abnormalities. The prevalence of congenital anomalies varies depending on the specific anomaly and geographical location. Congenital anomalies can be classified into structural anomalies, functional anomalies, or a combination of both.
Structural anomalies involve abnormalities in the structure or form of a body part or organ. Functional anomalies, on the other hand, affect the function or how a body part or organ works.
Ringkasan
- Functional gastrointestinal (GI) disorders are characterized by symptoms like early satiety, burning, vomiting, epigastric pain, abdominal fullness, discomfort, and nausea, despite negative endoscopy findings. Around 70% of dyspepsia cases fall under this category, while a small percentage may be due to reflux or malignancy.
- The pathophysiology of functional GI disorders differs from organic and motility disorders. While organic disorders involve organ morphology changes and motility disorders affect organ function, functional disorders manifest as patient-reported symptoms without identifiable abnormalities in lab tests, radiology, or endoscopy. Rome diagnostic criteria are used for diagnosis.
- Epigastric Pain Syndrome and Post-prandial Distress Syndrome are two distinct entities as per the Rome criteria, now classified as disorders of brain-gut interaction. However, clinical overlap is common. Pathophysiology includes impaired fundal accommodation, abnormal motility, delayed gastric emptying, hypersensitivity to gastric distention and acid. Gut microbiota alterations also play a role through small-bowel inflammation and changes in bile acid pool.
- Clinical presentation challenges stem from patient hypervigilance, visceral hypersensitivity, and sensorimotor abnormalities, leading to varying and overlapping symptoms. Functional dyspepsia frequently overlaps with gastroesophageal reflux disease. Alarm symptoms such as unintended weight loss, anemia, fever, abdominal mass, nocturnal symptoms, family history of GI malignancy, and visible GI bleeding require investigation.
- H. pylori testing is crucial in dyspepsia management, especially in high-prevalence regions like India. While Western guidelines suggest empirical PPI therapy, direct testing is more appropriate in India. Management strategies include PPIs, anxiolytics/antidepressants, prokinetics (especially for post-prandial distress), dietary modifications, H. pylori eradication, and herbal remedies.
- Bloating is a subjective sensation of trapped gas or distension, affecting 16-30% of the population. Treatment involves dietary restrictions (non-absorbable sugars, low-FODMAP diet), probiotics, and antibiotics (rifaximin) for small intestinal bacterial overgrowth. Belching, the escape of gas from the esophagus, is categorized as supragastric (voluntary) or gastric (involuntary). Differentiating between the two is essential for proper management, often involving esophageal manometry. Supragastric belching can be treated with speech therapy or cognitive behavioral therapy.
- Constipation in the Indian context has unique perceptions. Traditional definitions of constipation based on stool frequency may not be accurate due to differing stool frequency, stool weight, and gut transit times. The Rome criteria are used, emphasizing factors like lumpy/hard stools, straining, incomplete evacuation, anorectal obstruction, and manual maneuvers.
- Functional constipation can be normal transit, defecatory disorders, slow transit, or a combination. Secondary causes, including neurological, metabolic, mechanical, and drug-related factors, should be excluded. Key investigations include anorectal manometry, balloon expulsion test, colonic transit time study, and defecography.
- Anorectal manometry assesses rectal and sphincter function during defecation. Colonic transit studies use radiopaque markers to determine transit time and identify slow transit constipation or defecatory disorders. MRI-defecography is useful for anatomically assessment.
- Constipation treatment follows a step-up/step-down approach. Options include fibers (avoided in bloaters), osmotic agents (polyethylene glycol, lactulose), stimulants (bisacodyl), secretagogues (lubiprostone, linaclotide), and prucalopride (for slow transit constipation). Rifaximin is useful for methane producers. A detailed management algorithm incorporates life-style modifications, laxatives, referral to a tertiary center, consideration of evacuation disorders, and ultimately biofeedback or surgery.
Contoh Sertifikat
Tentang Pembicara
Dr.Bharat Parmar
Consultant Radiation Oncologist and Pain and Palliative Care PhysicianYashoda Hospitals
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