Osteogenesis imperfect is an autosomal dominant condition. All the rest of the options are autosomal recessive conditions.

Endometriosis is a chronic gynaecologic disease characterized by the development and presence of histological elements like endometrial glands and stroma in anatomical positions and organs outside of the uterine cavity. The main clinical manifestations of the disease are chronic pelvic pain and impaired fertility. The localization of endometriosis lesions can vary, with the most commonly involved focus of the disease the ovaries followed by the posterior broad ligament, the anterior cul-de-sac, the posterior cul-de-sac, and the uterosacral ligament.

The clinical presentation of the disease differs in women and may be unexpected not only in the presentation but also in the duration. Clinicians usually suspect and are more likely to diagnose the disease in females presenting with the typical symptomatology such as dyspareunia, namely painful sexual intercourse, pelvic pain during menstruation (dysmenorrhea), pain in the urination (dysuria), defecation (dyschezia), and/or infertility. The pain is usually characterized as chronic, cyclic, and progressive (exacerbating over time). Furthermore, some women suffering from endometriosis experience hyperalgesia, a phenomenon, when even with the application of a nonpainful stimulus, an intolerable painful reaction is released. This condition indicates neuropathic pain.

Tenderness on vaginal examination, palpable nodules in the posterior fornix, adnexal masses, and immobility of the uterus are diagnostically indicating findings of endometriosis.

Decreased pregnancy-associated plasma protein (PAPP-A) in the first trimester of pregnancy is an indication to carry out further diagnostic testing for Down syndrome.

Antenatal tests available for screening Down syndrome are divided into two types:
– Screening tests includes maternal serum screening and ultrasound which are safe to conduct with relatively low predictive values.
– Diagnostic tests like chorionic villous sampling and amniocentesis are confirmative but carries higher risk of miscarriage as 1 in 100 and 1 in 200 respectively.

a) Serum screening tests for Down syndrome during first-trimester includes:
1. Pregnancy-associated plasma protein (PAPP-A) will be decreased in case of Down syndrome.
2. Free ß-human chorionic gonadotropin (HCG) will be increased in cases of Down syndrome.
If these screening tests are combined with first-trimester ultrasound nuchal translucency, it is found to be more accurate than doing only one of these tests.

b) Second-trimester serum screening tests for identifying Down syndrome:
1.Alpha-fetoprotein will be decreased.
2.Unconjugated oestriol will be decreased.
3.Free ß-HCG will be increased
4.Inhibin A will be increased.
These tests combined with maternal age and ultrasound results will provide more accurate predictive values.

Sigmoid colon is part of the hindgut and the hindgut is innervated by the T12-L1 segment of the spinal nerves.

Group B Streptococcus (GBS) or Streptococcus agalactiae is a Gram-positive bacteria which colonizes the gastrointestinal and genitourinary tract. In the United States of America, GBS is known to be the most common infectious cause of morbidity and mortality in neonates. GBS is known to cause both early onset and late onset infections in neonates, but current interventions are only effective in the prevention of early-onset disease.

The main risk factor for early-onset GBS infection is colonization of the maternal genital tract with Group B Streptococcus during labour. GBS is a normal flora of the gastrointestinal (GI) tract, which is thought to be the main source for maternal colonization.

The principal route of neonatal early onset GBS infection is vertical transmission from colonized mothers during passage through the vagina during labour and delivery.

Intravenous penicillin G is the treatment of choice for intrapartum antibiotic prophylaxis against Group B Streptococcus.

The substructures of the nephrons are mainly located within the cortex. The JGA sits next to the glomerulus in the cortex (click on the magnifying glass of the image to see the arrangement). They play an important role in blood pressure homeostasis as the juxtaglomerular cells produce renin. The descending and ascending limbs of the loop of Henle and collecting ducts have sections within both the cortex and medulla

Maximum levels of progesterone are detected at day 21 of 28 days in the menstrual cycle, assuming that ovulation has occurred at day 14. A value of >30nmol/l indicates an ovulatory cycle.

Abnormal uterine bleeding is a relatively common disorder which may be due to functional disorders of the hypothalamus, pituitary, or ovary, as well as uterine lesions. However, the patient who is younger than 30 years of age will rarely be found to have a structural uterine defect. Once pregnancy, hematologic disease, and renal impairment are excluded, administration of intramuscular or oral progesterone will usually produce definitive flow and control the bleeding. No further evaluation should be necessary unless the bleeding recurs.

Endometrial aspiration, dilatation and curettage, and other diagnostic procedures are appropriate for recurrent problem or for older women. Oestrogen would only increase the problem, which is usually due to anovulation with prolonged oestrogen secretion, producing a hypertrophic endometrium.

To provide suitable advice to this couple, the candidate must be aware of the following facts:
Because the luteal phase is 14 days long, regardless of the follicular phase length, ovulation happens 14 days before the period.
As a result, ovulation in this lady might have occurred as early as day 12 or as late as day 15 of her cycle.
In the presence of adequate and normal cervical mucus, sperm survival has been demonstrated to be far longer than previously thought, with intercourse occurring up to 6 days before the known period of ovulation, resulting in pregnancy.
Intercourse should be stopped six days before the earliest ovulation in this woman (i.e. on day six).
– It is generally accepted that the ovulated egg can be fertilised for approximately 24-36 hours.
Intercourse should not be restarted for at least two days after the most recent ovulation.
This would be day 17 for this woman.
Between days 6 and 17 of the cycle, abstinence is required.

Tetracycline is classified as a broad spectrum antibiotic. It is a bacteriostatic inhibitor of protein synthesis acting at the ribosomal level. Tetracycline binds to the 30s ribosomal subunit preventing the binding of the aminoacidic charged T-RNA to the ribosome-mRNA complex.