Trisomy 13 (Patau Syndrome)

Trisomy 13 (also called Patau syndrome) is a genetic disorder in which a person has three copies of genetic material fromchromosome 13, instead of the usual two copies. Rarely, the extra material may be attached to another chromosome (translocation).

Causes, incidence, and risk factors

Trisomy 13 occurs when extra DNA from chromosome 13 appears in some or all of the body's cells.

Trisomy 13 -- the presence of an extra (third) chromosome 13 in all of the cells.

Trisomy 13 mosaicism -- the presence of an extra chromosome 13 in some of the cells.

Partial trisomy -- the presence of a part of an extra chromosome 13 in the cells.

The extra material interferes with normal development.

Trisomy 13 occurs in about 1 out of every 10,000 newborns. Most cases are not passed down through families (inherited). Instead, the events that lead to trisomy 13 occur in either the sperm or the egg that forms the fetus.

Lebih 13,000 terbunuh di Syria

DAMSYIK - Lebih 13,000 orang terbunuh di Syria sejak kebangkitan menentang pemerintahan Presiden Bashar Al-Assad bermula pada Mac 2011, kata seorang pegawai pertubuhan Pemantauan Rakyat Syria untuk Hak Asasi, Rami Abdel Rahman semalam.

"Secara keseluruhan 13,004 orang terbunuh dengan 9,183 mangsa ialah orang awam," katanya.

Menurutnya, 3,072 yang lain merupakan askar pemerintah manakala 749 terdiri daripada pembelot dalam tentera Syria.

Keganasan di Syria kini semakin memuncak walaupun satu persetujuan gencatan senjata yang diusahakan bersama oleh Liga Arab dan Pertubuhan Bangsa-Bangsa Bersatu berkuat kuasa pada 12 April lalu.

"Sejak gencatan senjata dikuatkuasakan, seramai 1,881 telah terbunuh," ujar Abdel Rahman.

Beliau merujuk kepada siri pertempuran yang tercetus antara pemberontak dan tentera Syria serta beberapa serangan bom.

Script for Short Case in Obstetrics

Before begining  :

#    Introduction
#    Permission
#    Positioning
#    Exposure
#    Comfortable
#    pull your measuring tape earlier (it would be annoying if u do it during palpation)

For abdominal Examination in Obstetric,

Inspection

1]  The abdomen is distended by gavid uterus.

2]  as evidences of linea nigra and striae gravidarum
      (also must note wether she have striae albicans , suggestive of previous pregnancy)

3]  There is no previous surgical scar noted.

 #( must be very carefull in finding the scar,especially the C-sect scar that could be hidden below the tummy                   skin fold )

*if there is previous surgical scar,describe the scar as :
       a) location of scar
       b) size(measure it with ruler) and shape of the scar
       c) any colour  changes
       d) well-heal or not (state wether any hypertrophic scar or keloid, primary or secondary intention)

4]  Abdomen is moving with respiration.
      (if patient in severe pain or having peritonitis,the abdomen might not moving with respiration)

5]  State to the examiner if there is any visible fetal movement or any dilatation of vein. (If absent, better to    not say it )

6]  The umbilicus is centrally located.
      (centrally located when the distance between xiphisternum and umblicus is equal to umbilicus to  symphisis pubis )##the examiner like to ask this, why u say it is centrally located..

Trisomy 18 (Edward Syndromes)

What is trisomy 18?

Trisomy 18, also called Edwards syndrome, is a chromosomal condition associated with abnormalities in many parts of the body. Individuals with trisomy 18 often have slow growth before birth (intrauterine growth retardation) and a low birth weight. Affected individuals may have heart defects and abnormalities of other organs that develop before birth. Other features of trisomy 18 include a small, abnormally shaped head; a small jaw and mouth; and clenched fists with overlapping fingers. Due to the presence of several life-threatening medical problems, many individuals with trisomy 18 die before birth or within their first month. Five to 10 percent of children with this condition live past their first year, and these children often have severe intellectual disability.

How common is trisomy 18?

Trisomy 18 occurs in about 1 in 5,000 live-born infants; it is more common in pregnancy, but many affected fetuses do not survive to term. Although women of all ages can have a child with trisomy 18, the chance of having a child with this condition increases as a woman gets older.

Assisted Reproductive Technologies (ART)

Defined in its broadest sense, the term assisted reproductive technologies (ART) could be applied to any therapy directed toward improving the chances of conception. In the current vernacular ART is reserved to describe those interventions related to in vitro fertilization (IVF) and embryo transfer. A brief overview of current ART procedures is provided below.

a)        IVF

b)      ICSI

c)      GIFT

d)      ZIFT

e)      IUI

IVF

In vitro fertilization (IVF) is the most effective procedure and has grown in demand since the first child was conceived by IVF in 1978. IVF is a multi-step process in which eggs (oocytes) are extracted from the woman’s ovary (where the eggs are produced), fertilized by sperm in a laboratory, cultured into early embryos and then transferred into the woman’s uterus. According to the Canadian Fertility and Andrology Society, the live birth rate from a combined total of 9,904 IVF/ICSI treatment cycles in 2008 was 29% per cycle started. In 2010, preliminary results reported the overall pregnancy rate from a combined total of 10,390 IVF/ICSI treatment cycles in 2009 was 37% per cycle started.

ICSI

Intracytoplasmic sperm injection (ICSI) is done in combination with IVF to increase the chances of fertilization. In brief, this procedure involves injecting a single sperm into an egg using a microscope and specialized instruments. ICSI is the treatment of choice for severe male factor infertility and can be used for unexplained infertility where fertilization does not occur with standard IVF procedures. Fertilization rates for ICSI are reported to be between 60 – 70%.

GIFT

Gamete intrafallopian transfer (GIFT) is a variation of IVF that is an option for women with at least one unblocked fallopian tube. In GIFT, eggs are retrieved from the woman’s ovary and placed with the male sperm (obtained prior to the procedure) into a small catheter. The catheter (a flexible tube) is used to immediately deliver the eggs and sperm into the woman’s fallopian tubes where nature takes over. Unlike IVF where fertilization occurs in the laboratory, in GIFT the fertilization takes place inside the woman’s body.

ZIFT

Zygote intrafallopian transfer (ZIFT) is essentially a blend of both GIFT and IVF. Fertilization of the eggs occurs in the laboratory and the newly fertilized eggs (zygotes) are placed into the fallopian tubes rather than into the uterus as they would in IVF. It involves two separate procedures: an egg retrieval on one day followed by a laparoscopy the next day to transfer the zygotes into the tube.

IUI

Intrauterine insemination (IUI) is used for women with thick cervical mucous or semen allergies, and for men with low sperm counts and motility. The procedure is fairly simple and can be done in a healthcare provider’s office near the time of ovulation.

IUI is performed when a woman is releasing eggs (ovulation). Sperm is collected from the man prior to the procedure and it is washed with a special solution in the laboratory. It is then injected into the uterus using a thin tube (catheter) attached to a plastic syringe. IUI is also used if sperm shows poor motility (swimming ability) or if there is an ejaculatory problem, but the effectiveness of IUI is naturally higher if sperm parameters are within the normal limits. Results depend on the diagnosis and the treatments done in conjunction with IUI.

Cesarean Section , step by step

There are several incisions (cuts) your obstetrician will need to make as part of a C-section. Rest assured that the entire procedure, without complications, lasts a little over half an hour and your body should heal quickly in the weeks that follow.

I prefer to make the horizontal, or "bikini" incision in the lower abdomen. It's called a "Pfannenstiehl" incision, and besides being cosmetically superior to the up-and- down midline incision, it also heals better and hurts less during recovery.

A scalpel is used to make this incision. This is done with a smooth firm pressure of the blade as it moves across and against the skin. The skin is thin and the blade is so sharp that the underlying yellow fat layer almost bursts out. A smaller tract of cutting then takes place in the middle of this fat layer until a shiny, tough, fibrous layer called the fascia is seen below it. The fascia, which lies over the abdominal muscles, also serves as a floor for the fatty layer just cut into. One can push a finger of each hand against this fascia and then rake away the fatty layer to each side, exposing an adequate length of this tough, lower layer. Once again, a scalpel is used to nick an opening in this fascia that's just been exposed. 

The rectus abdominal muscles (the "abs") are two muscles that run up and down from the upper abdomen down to the pubic bone. They are joined together at the midline, so when a pair of scissors is used to cut this fascia, horizontally toward each side, these muscles are easily seen. Where they meet can be easily separated with a gentle pushing away at the midline. They're fairly pliable, and even though they run vertically compared to the horizontal incisions made thus far, they can easily be pulled apart and away to expose the next layer to open.