ENDOMETRIOSIS

The proliferation and functioning of endometrial tissue outside of the uterine cavity

Incidence: - 15-30% of all premenopausal women, -mean age at presentation: 25-30 years
 
Etiology - unknown

theories

- retrograde menstruation theory of Sampson
- Mullerian metaplasia theory of Meyer
- endometriosis results from the metaplastic transformation of peritoneal mesothelium under the influence of certain unidentified stimuli
- lymphatic spread theory of Halban
- surgical transplantation
- deficiency of immune surveillance

Predisposing Factors

- nulliparity
- age > 25 years
- family history
- obstructive anomalies of genital tract

Sites of Occurrence

ovaries  most common location, 60% of patients have ovarian involvement
broad ligament
peritoneal surface of the cul-de-sac (uterosacral ligaments)
rectosigmoid colon
appendix

Symptoms

there may be little correlation between the extent of disease and symptomatology

pelvic pain - due to swelling and bleeding of ectopic endometrium, unilateral if due to endometrioma

dysmenorrhea (secondary) - worsens with age, suprapubic and back pain often precede menstrual flow (24-48 hours) and continue throughout and after flow

infertility - 30-40% of patients with endometriosis will be infertile, 15-30% of those who are infertile will have endometriosis

dyspareunia  on deep penetration

premenstrual and postmenstrual spotting
bladder symptoms - frequency, dysuria, hematuria

bowel symptoms - direct and indirect involvement diarrhea, constipation, pain and hematochezia

Diagnosis

truly a surgical diagnosis

history - cyclic symptoms - pelvic pain, dysmenorrhea, dyschezia

physical examination

- tender nodularity of uterine ligaments and cul-de-sac
- fixed retroversion of uterus
- firm, fixed adnexal mass (endometrioma)

laparoscopy

- dark blue or brownish-black implants (mulberry spots) on the uterosacral ligaments, cul-de-sac, or anywhere in the pelvis
- chocolate cysts in the ovaries (endometrioma)
- powder-burn lesions
- early white lesions and blebs

Treatment

pseudopregnancy - cyclic estrogen-progesterone (OCP) or medroxyprogesterone (Provera)

pseudomenopause - danazol (Danocrine) = weak androgen, s/e:  weight gain, fluid retention, acne, or hirsutism, leuprolide (Lupron) = GnRH agonist (suppresses pituitary GnRH)

s/e: hot flashes, vaginal dryness, reduced libido, and osteoporosis with prolonged use .these can only be used short term because of osteoporotic potential

surgical

- laparoscopic resection and lasering of implants
- lysis of adhesions
- use of electrocautery
- unilateral salpingo-oophorectomy
- uterine suspension
- rarely total pelvic clean-out
- follow-up with 3 months of medical treatment

1.cleft palate is best repaired

1) Soon after birth B
2) At one month
3) At 6-8 months
4) Between 12-18 months

Ans 4

Cleft lip repair should be done between 3-6 months of age.

 

2. Intra-osseous access for drugs and fluid administration is recommended for paediatric group up to the age of

1) <one year
2) <4 yeats
3) <6 years
4) Up to 12 years

Ans. 3

3. Which of the following is a true statement regarding congenital diaphragmatic hernia (CDH)

1) Common on right side
2) Associated with pulmonary hypoplasia
3) Present with recurrent vomiting at birth
4) Baby benefited with bag mask ventilation

Ans. 4

CHD is common on left side by which gastric contents herniate to thoracic cavity  , Bag mask ventilation in these babies leads to gastric distension which may further compress the lungs and increase mediastinal shift.

a forcep is a metal device  that enables gentle rotation and/or traction of the fetal head during vaginal delivery

Types

Kielland: enables rotation and traction of the fetal head

Simpson: only enables traction of the fetal head

Barton: used for occiput transverse position of the fetal head

Piper: used to deliver the fetal head during breech delivery

Classification

Outlet: fetal head lies on the pelvic floor
Low: fetal head is below +2 station (not on the pelvic floor)
Mid: fetal head is below 0 station (not at +2 station)
High: fetal head is not engaged

Indications

Prolonged second stage of labor

Breech presentation

Nonreassuring fetal heart rate

To avoid/assist maternal pushing efforts

Prerequisites

Clinically adequate pelvic dimensions (see “Mechanics of childbirth”)

Full cervical dilation

Engagement of the fetal head

Knowledge of exact position and attitude of the fetal head

Emptied maternal bladder

No suspicion of fetal bleeding or bone mineralization disorders

Advantages
Scalp injuries are less common

Cannot undergo decompression and “pop off”

Complications

Maternal: obstetric lacerations (cervix, vagina, uterus)

Fetal: head or soft-tissue trauma (e.g., scalp lacerations, injured ears), facial nerve palsy

 

Anti-Anginal Drugs

Nitrates

- It include nitroglycerin (glyceryl trinitrate) or pentaerythritol tetranitrate, isosorbide dinitrate and isosorbide mononitrate.
- Liberation of NO
- Cause venodilation, decrease VR and ventricular filling pressure and wall tension; therefore decrease O2 consumption
- Problem with Tolerance – fix with intermittent administration (patch 12hrs on 12hrs off)
- Often offered sublingually or transdermally

Beta-Blockers

- It include either cardioselectives such as acebutolol or metoprolol, or non-cardioselectives such as oxprenolol or sotalol.
- Reduce myocardial O2 demand by decreasing HR and contractility; blocking B1
- Contraindicated in variant angina, good for chronic prophylaxis of stable angina

Calcium Channel Blockers

-It include Class I agents (e.g., verapamil), Class II agents (e.g., amlodipine, nifedipine), or the Class III agent diltiazem.

- All existing CCBs block L-Type channels
- 1st  Generation; 3 Classes:  - Phenylalkalamines  (ex: Verapamil) , - Benzothiazepinones (ex: Diltiazem) , - Dihydropyridines (ex: nifedipime)
- Less depressant activity on heart than the other
-  Associated with reflex-tachycardia from baroreceptors
- Problem in pts with angina

Nifedipine is more a potent vasodilator and more effective in angina. It is in the class of dihydropyridines and does not affect refrectory period on SA node conduction.

 

L: Lungs - Atypical pneumonia.
Relatively nonproductive cough
Dyspnea
Pleuritic or non pleuritic chest pain
Confluent or patchy infiltrates on x-ray
Random fact: Interstitial infiltrates aren’t seen often like in other atypical pneumonias.

E: Encephalon - Neurologic abnormalities.
Headache
Confusion or changes in mental status
Encephalopathy

G: Gastrointestinal symptoms.
Abdominal pain
Nausea
Vomiting
Watery diarrhea

ION: Na ion decreases.
Hyponatremia (serum sodium level of 131 meq/L)

Medications can interfere with folate metabolism, including:

anticonvulsant medications (such as phenytoin, primidone, carbamazepine or valproate)
metformin (sometimes prescribed to control blood sugar in type 2 diabetes)
methotrexate, an anti-cancer drug also used to control inflammation associated with Crohn disease, ulcerative colitis and rheumatoid arthritis.
5-fluorouracil
Hydroxyurea
trimethoprim
sulfasalazine (used to control inflammation associated with Crohn disease, ulcerative colitis and rheumatoid arthritis)
triamterene (a diuretic)
birth control pills

Alport’s Sd (most cases): "hereditary nephritis", type IV collagen deficit, mutation of COL4A5 ("colaas" - alpha-5 chain, type 4 collagen), hearing loss, ocular abnormalities (lens & cornea), hematuria since childhood (gross, micro)

Charcot Marie Tooth: loss of motor & sensory innervation, distal weakness & sensory loss, wasting in the legs, decreased deep tendon reflexes, tremor, foot deformity with a high arch is common (pes cavus), legs look like inverted champagne bottles. Most accurate test: electromyography. No tx.

Focal Dermal Hypoplasia: skin abnormalities and a wide variety of defects in eyes; teeth; and skeletal, urinary, gastrointestinal, cardiovascular, and central nervous systems.

Fragile X Syndrome: CGG trinucleotid repeat, FMR 1 gene mutation, mental retardation, large ears and jaw, post-pubertal macro-orchidism (males), attention deficit disorder (females)

Hypophosphatemic rickets: infants may show growth retardation, widened joint spaces and flaring at the knees at age 1 (> boys), bowing of the weight-bearing long bones, young children-dentition absent or delayed, older children-multiple dental abscesses.

Incontinentia pigmenti: skin abnormalities (blister--> warts--> hyperpigmentation--> hypopigmentation), alopecia, hypodontia, cerebral atrophy, slow motor development, mental retardation, seizures, skeletal & structural anomalies. Letal >males.

Orofaciodigital Sd: OFD1 gene mutation, malformations of face, oral cavity, digits with polycystic kidney disease and variable involvement of the central nervous system.

RETT’s Sd: sporadic mutation of MECP2 gene, onset 2yo, acquired microcephaly, stopped development, motor & speech regression, autism-like behavior, self-mutilating behavior, inconsolable crying/screaming fits, emotional inversion, hypotonia, dystonia, chorea, bruxism, scholiosis, long QT

Alport’s Sd: "hereditary nephritis", type IV collagen deficiency, alternating thickening & thinning of GBM, COL4A5 mutation, hearing loss, ocular abnormalities (lens & cornea), hematuria (gross or micro) since childhood.

Bruton’s Agammaglobulinemia: btk gene defect, no mature B cells or plasma cells, low lymphoid tissue, hepatitis, enterovirus infxs, first 6 months protected by maternal ab (no symptoms)

Becker’s Muscular Dystrophy: altered dystrophin gene, later onset than Duchene's, slow progression, relatively normal life span, less severe, rare cardiac involvement.

Chronic Granulomatose Disease (CGD): NAPDH oxidase deficiency, recurrent catalase (+) infxs, nitroblue tetrazolium test negative (yellow)

Congenital Aqueductus Stenosis: MCC of congenital obstructive hydrocephalus.

Color blindness (red-green): can't distinguish shades of red and green (usually blue-green)

Duchene’s muscular Dystrophy: dystrophin gene mutation (Xp21), absent dystrophyn protein, MC & severe of muscular dystrophies, normal until 5yo, short life span (<30yo), progressive muscle weakness, calf pseudohypertrophy, <3 failure, arrythmias, respiratory insufficiency and infxs (decreased mucociliary clearence). Pneumonias CC of death.

Fabry’s Disease: alpha Galactosidase A, Ceramide trihexose accumulation, angiokeratomas, renal failure, peripheral neuropathy.

Glucose 6-P Dehydrogenase (G6PD) Deficiency: chronic hemolytic anemia, MCC of enzymatic deficiency HA, Heinz bodies, bite cells. Triggers are infections, drugs (antimalarial), fava beans

Hemophilia A & B: factor VIII & IX deficiency respectively. PTT prolongation.

Hunter Disease: iduronate sulfatase deficiency, heparan sulfate accumulation, no corneal clouding, aggressive behaviour.

Inherited Nephrogenic Diabetes Insipidus: V2 receptors in collecting duct don't respond to ADH.

Lesch-Nyhan Sd: HGPRT1 deficiency, spastic cerebral palsy, self-mutilation, hyperuricemia, oral crystals in diapers, early death.

Menkes Disease: ATP7A gene mutation (copper efflux protein), Cu+ is lysil oxidase cofactor, Cu+ accumulates in intestine & kidneys; deficient in other tissues = deficient collagen cross linking; steely 'kinky' hair, MR, arterial tortuosity, hypotonia.

Ornithine Transcarbamoylase Deficiency: urea cycle, orotic aciduria + hyperammonemia (no megaloblastic anemia), orotic acid accumulation, increased glutamine . Cerebral edema, lethargy, vomiting, hyperventilation, convulsions, coma, death.

SCID: IL-receptor, Gamma chain deficiency

Wiskott Aldrich Sd: combined partial B & T immunodeficiency, IgM deficiency, thrombocytopenia, eczema.

Thalassemias are a heterogeneous group of hereditary blood disorders characterized by faulty globin chain synthesis resulting in defective hemoglobin, which can lead to anemia

Thalassemia provides partial resistance against malaria.

Beta thalassemia

- most commonly seen in people of Mediterranean descent

Etiology

usually due to point mutations in promoter sequences or splicing sites

β-globin locus - short arm of chromosome 11

In a normal cell, the β-globin chains are coded by a total of two alleles . Thus, there are two forms of the disease.

Beta thalassemia minor (trait): one defective allele

Beta thalassemia major (Cooley's anemia): two defective alleles

Pathophysiology

Inefficient erythropoiesis → anemia

Beta thalassemia minor and major: faulty β-globin chain synthesis → ↓ β-chains→ ↑ γ-,δ-chains → ↑ HbF  and ↑ HbA2

 

Alpha thalassemia

most commonly seen in people of Asian and African descent

Etiology

usually due to deletion of at least one out of the four existing alleles

Inheritance pattern: autosomal recessive

In a normal cell, the α-globin chains are coded by a total of four alleles. 

Thus, there are four forms of the disease. The severity of alpha thalassemia depends on the number of defective α-globin alleles.

- Silent carrier (minima form): one defective allele (-α/αα)

- Alpha thalassemia trait (minor form) -Two defective alleles ,Cis-deletion is common amongst Asian populations, whereas trans-deletions are more common in African populations

- Hemoglobin H disease: three defective alleles

- Hemoglobin Bart disease (major form): four defective alleles

Pathophysiology

Alpha thalassemia major (HbH disease) and Bart disease: faulty α-globin chain synthesis → ↓ α-chains → ↑ β-, γ-chains → ↑ HbH, ↑ Hb-Bart's

Predisposing factors

Pipe smoking
Syphilis
Chronic superficial glossitis
Alcohol
Chronic irritation -sharp tooth
Betel nuts

Macroscopically

Ulcer –most common
irregular margins evertededges

Warty growth

Induratedgrowth or mass

Fissure

Clinical features

Usually age > 50 yrs

Sex both equally

Painless lump or ulcer on tongue

Excessive salivation

Foetororis

Ankyloglossia-immobility of tongue

Pain –involvement of nerve

Horsenessof voice & dysphagiain posterior 3rd tongue

Lump in neck

Examination

Site -common anterior 2/3 near edges

Ulcer papilliferoursor  warty, lump fissure

Palpation of posterior 2/3 tongue

Largngoscopy

Examination of lymph node
Submental
Submandibular
Jugulodiagastric

Diagnostic

Biopsy : margin or excision biopsy

FNAC lymphnodes

Ultrasound deep LN

CT scan bone invasion & mets

MRI for oral cavity oropharynx

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