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Mucocolpos in a 7 Month old newborn

22 Jul

Abstract

Imperforate hymen is an extreme manifestation of hymenal variation occurring in as less as 0.0014 to 0.1% of infants girls. Female infants with imperforate hymen rarely present with urological complications. We would like to  present  an unusual case of urinary incontinence with hydroureter and hydronephrosis in a 7 month old female child due to a large mucocolpos. This infant was successfully treated surgically.

 Case  Report

A  mother presented to the Uro-Gynaecology Outpatient department with her 7 month old daughter having complaints of urinary incontinence with dribbling of urine and mass in lower abdomen since last 15-20 days. On examination there was a large cystic mass in the hypogastrium which was extending upto the umbilicus. The lower end of masscould not be reached suggesting that it was arising from the pelvis. Ultrasonography showed a large cystic mass arising from the pelvis with a distended urinary bladder, hydroureter and hydronephrosis.(Fig 1). Differential diagnosis of bladder diverticulum, mesenteric cyst, a tuboovarian mass,or an ovarian cyst was made. Cystourethrogram was performed which showed a distended urinary bladder displaced anteriorly due to some mass behind it(Fig 2,3). Detailed gynecological examination was done under anaesthesia which revealed a bulging  IMPERFORATE  HYMEN. It was incised by a cruciate incision and ~1500 ml of straw coloured fluid was drained out.

 Discussion

Ambroise Pare first described Imperforate hymen in 1633.1  Most distal form of vaginal outflow obstruction is called “imperforate hymen”. During normal embryological development, the central portion of the hymenal membrane disappears, creating the hymenal opening at the level of the vaginal vestibule.(Fig 4). Persistance of the intact hymenal membrance results in the condition of imperforate hymen. The imperforate hymen is a solid membrane interposed between the proximal uterovaginal tract and the introitus. This vertical fusion defect from other vertical fusion defects in that it is not derived from the mullerian system. This vaginal oulet obstruction leads to entrapment of vaginal and uterine secrection above it forming a cystic collection in the pelvis. Large mucocolpos can cause urethral compression anteriorly leading to bladder outflow obstruction,urinary retention with urnary tract infection, hydroureter and hydronephrosis. Most neonates with imperforate hymen are missed at birth, delaying the diagnosis sometimes upto early adolescence when they present with hematometrocolpos. Imperforate hymen may also present with back pain ,urinary retention (37%- 60% of patients ), and constipation.2 Physical examination may reveal a lower abdominal mass on plapation, or a pelvis mass on bimanual rectal examination. The diagnosis of imperforate hymen is often established during examination when a distended bluish membrane is observed at the introitus. In the absence of this finding, only imaging study by ultrasound or MRI can establish the level of obstruction. The differential diagnoses of uterovaginal obstruction include disorders of vaginal development, such as a transverse vaginal septum or complete vaginal agenesis.which may be associated with other development anomalies(e.g, Rokitansky- Kuster-Maier-Hauersysdrome).

Prenatal diagnosis of imperforate hymen has also been reported. Fetal diagnosis has occurred as early as 25 weeks` gestation. A thin bulging memebrane separating the labia in association with a distended vagina is apparent on ultrasounography,3 these finding are usually noted during an evaluation for fetal ascites and are thought to result from distal urinary tract obstruction, however they can also be related to reflux of uterine contents through the fallopian tubes. Ascites and bladder outlet obstruction are the most common associated finding in the fetal period.4  Intestinal, cardiac and anorectal defects have NOT been reported in conjuction with imperforate hymen. Sometimes polydactyly is associated with imperforate hymen as in Mckusick-Kaufmann sysdrome.5

Careful evaluation of the perineum of the newborn is essential. Female neonate has full labia majora under the influence of maternal estrogens. Inspection of the introitus reveals that hymenal membrane is pink and slightly edematous. In the newborn with an imperforate hymen, the membrane is often bulging because of retained mucoid secretions. A vaginal cyst which fills the introitus but is attatched only to one vaginal aspect should be distinguished from imperforate hymen.

Aspirating secretions beyond the obstruction should be deferred because this procedure may result in iatrogenic pyocolpos. Instead, the diagnosis should be confirmed by performing noninvasive imaging studies (Ultrasonography, MRI) to determine the extent of vaginal outflow obstruction and to diagnose other associated anomalies (i.e imperforate hymen and a transverse vaginal septum) can occur.6

References :

  1. Wall EM, Stone B, Klein BL. Imperforate hymen: a not-so-hidden diagnosis. Am J Emerg Med. May 2003;21(3):249-50.
  2. Nazir Z, Rizvi RM, Qureshi RN, Khan ZS, Khan Z. Congenital vaginal obstructions: varied presentation and outcome. Pediatr Surg Int. Sep 2006;22(9):749-53.
  3. Winderl LM, Silverman RK. Prenatal diagnosis of congenital imperforate hymen. Obstet Gynecol. May 1995;85(5 Pt 2):857-60.
  4. Ogunyemi D. Prenatal sonographic diagnosis of bladder outlet obstruction caused by a ureterocele associated with hydrocolpos and imperforate hymen. Am J Perinatol. 2001;18(1):15-21.
  5. El-Messidi A, Fleming NA. Congenital imperforate hymen and its life-threatening consequences in the neonatal period. J Pediatr Adolesc Gynecol. Apr 2006;19(2):99-103.
  6. Ahmed S, Morris LL, Atkinson E. Distal mucocolpos and proximal hematocolpos secondary to concurrent imperforate hymen and transverse vaginal septum. J Pediatr Surg. Oct 1999;34(10):1555-6.
  7. Internet website  available on http://www.embryology.ch/anglais/ugenital/genitinterne06.html#sug

(This reference has been used in legend  4a and 4b)

 

Legends :

Fig 1 :  Ultrasonography showing Hydronephrosis and Hydroureter

Fig 2 : Cystourethrogram showing bladder compressed and displaced anteriorly  due to some mass behind .(both anteroposterior and posteroanterior view)

Fig 3: Cystourethrogram showing a distended urinary bladder extending upto the ribcage of the baby.

Fig 4a: In females, the development of the SUG (urogenital sinus) begins in the 3rd month, at the same time as the formation of the vagina.7

1=Genital tubercle   2= Vestibule  2a =SUG : phallic part  2b= SUG : lower  pelvic part of definitive  urogenital sinus   3=Vaginal plate  4=Perineum  5=Rectum  6= Utero-vaginal canal   7 = Urinary bladder  8=Urethra

Fig 4b: The pelvic part of the SUG has shrunk and will be retracted into the phallic part in order to form the definitive vaginal vestibule.7

2= vestibule  3a = uterine cavity  3b =uterine cervix  6a= vagina:lower fourth out of endoderm 6b =vagina :upper 3/4th out of mesoderm   9= hymen

 

Author:

 Dr. Baldawa Pratibha S                  

M.S(Obgyn),D.N.B, D.G.O,F.C.P.S,D.F.P,   Assistant Professor .

Correspondence address :

Baldawa Hospital, Budhwar Peth, Near Kasturba Market, Solapur – 413002,

Maharashtra,India.

Phone: (+91) 217- 2324762 (home), (+91) 9745306852 [Mobile].

Email : guptapj@yahoo.com

 

Laparoscopic Management of Achalasia Cardia in a 6 month old infant

20 Nov

Introduction

Achalasia is a rare motility disorder of esophagus and is characterized by increased resting pressure of lower esophageal sphincter and reduced motility of the body. This results in functional obstruction and failure of relaxation of the lower esophageal sphincter (LES). The classic presentation is difficulty in swallowing and vomiting of undigested food, and children can often present with chest pain. In some instances, these symptoms can lead to considerable weight loss.

This condition is relatively rare in young children, and although some cases have an early onset, most are diagnosed in late childhood or early adolescence. We are yet to come across any reported case of achalasia in a 6 month old.

The classical treatment of achalasia in children is surgical division of lower esophageal sphincter, which decreases the sphincter pressure (Heller’s cardiomyotomy). This is done either by thoracotomy or by laparotomy, and used to be a formal undertaking. The development of

endoscopy and balloon dilatation of the sphincter, which aims to fracture the sphincter from within, rapidly gained popularity due to its relative non-invasive nature. Although 90% success rate has been claimed during the first year of follow up, the advantage peters away on long-term study, necessitating repeated dilatation. Endoscopy guided injection of Botulinum toxin into the sphincter is another option as Botulinum decreases sphincter pressure. But the results are short lived, and the inflammatory response and fibrosis makes subsequent surgery rather difficult.

The ideal antireflux procedure following laparoscopic Heller myotomy for achalasia is controversial. The authors present a laparoscopic technique of Heller’s cardiomyotomy with partial anterior fundoplication to bolster the myotomy [1].

Case report:

A 6 month old baby presented to us with persistent vomiting from 2 months of age and failure to thrive. He weighed 4 kg at 6 month of age. His other systemic examinations were normal. A barium study was done which showed holding up of barium, narrowing of the distal esophagus and delayed passage of barium into the stomach. Findings were consistent with Achalasia cardia (Fig. I). Upper GI endoscopy was not possible because of unavailability of a miniature infant endoscope. In a joint meeting with the pediatric gastroenterologist it was decided worthwhile to consider for surgery as repeated dilations will be more traumatic, stressful and morbid for a 6 month old infant with 4 kg weight. The child was taken up after anesthetist deemed the child fit for a laparoscopic Heller’s cardiomyotomy with Dor’s anterior fundoplication.

Surgical Technique:

A 24 Fr Nasogastric tube was introduced orally (Fig. II), over which the repair was done. A pneumoperitoneum was created using the Hassan’s technique, and 5 ports were inserted (Fig. III). 4 ports were 5 mm and a 3mm epigastric port was used to retract the left lobe of liver. A 5 mm 30 degree scope was introduced through supraumbilical port in the midline. The abdominal esophagus (AO) was identified and the phreno-oesophageal ligament divided.  The AO was completely exposed and pulled from the cardio-esophageal junction through the left anterior axillary port. A myotomy was performed from 2cm onto the stomach to the upper limit of the AO, about 5-6cm on the anterior aspect of the lower end of the esophagus to the left side of the anterior vagus nerve.  The muscle was split with good exposure (bulge) of the mucosa (Fig IV). An anterior fundoplication was done with 2/0 silk sutures taking 3 separate stitches. A stitch of the fundus to the left myotomy and right myotomy was taken separately to keep the myotomy open. (Fig V). Air was pushed with saline over the myotomy to ensure no leak. In the 3rd bite a part of the fundus was stitched to the angle of the hiatus so that the fundus covers over the bulged esophageal mucosa. The wounds were then closed with absorbable sutures and an adhesive dressing was applied (Fig VI).

Post-operatively, the patient was kept fasting for 48 hours. The baby was commenced on a liquid diet through the nasogastric tube after 2 days. Injectable co-amoxiclav was administered for 5 days with rectal paracetamol suppository for pain relief. Patient’s length of stay was 5 days, till he was started on oral feeds after removing the nasogastric tube. The patient was reviewed in our clinic 6 weeks after discharge from hospital, and was well, he had no difficulty  in swallowing with  no further episodes of vomiting with satisfactory weight gain.

Discussion
The predominant pathological process of achalasia involves the loss of ganglion cells from the wall of the esophagus, and this starts at the LES and develops proximally. The loss of nerves along the esophagus causes a lack of peristalsis, which in turn leads to stasis of undigested food and subsequent dilation of the esophagus. There are several forms of treatment for achalasia which include both conservative and surgical management, and the decision of which to choose involves the consideration of multiple clinical and economic factors.

Conservative management includes the use of pharmacological agents which do not eliminate the underlying disease but instead, only temporarily improve the condition. These include calcium channel blockers (e.g. nifedipine) and nitrates (e.g. isosorbide dinitrate), which act by compensating for the decrease in the inhibitory neurotransmitter, nitric Oxide (NO), and this facilitates a decrease in the LES tone.  In addition, use of these medications on a long term basis usually results in tolerance, and this significantly diminishes its effects over time.  Endoscopic therapy of botulinum toxin has been shown to improve the symptoms of dysphagia and regurgitation, decrease the tone of the LES and improve esophageal emptying.  However this may need to be repeated on several occasions to maintain an effect.  Pneumatic dilatation of the LES has also been shown to be effective and is thought to achieve symptomatic effect while being able to avoid the risks of more invasive surgery. However, there are risks associated with this procedure itself, like esophageal perforation and worsening symptoms of gastro-esophageal reflux [2]. There are no literature supporting such treatment in a 6 month old infant.

Surgical management is well documented in the literature and with minimally invasive surgery being the current trend in management of many surgical cases, it is no surprise that this is becoming the desired method of treatment. Large reviews have documented a 90% overall improvement of symptoms following surgery and this remains as high as 80% after 5 years [3]. There are quite conflicting results, however about the rate of gastro-esophageal reflux after performing a cardiomyotomy, and so the general trend is to do an anterior fundoplication (also known as a Dor Fundoplication) at the same time [4]. Operative complications, as in any other procedure, can occur, but are rare. These include mucosal tearing, perforation or post operative leakage [5]. Surgical therapy after failed pneumatic dilatation has also been shown to be very effective.

Considering the age of the child and a narrow working space between the liver and the hiatus, it was a very demanding procedure completed successfully. In essence, the morbidity associated with this procedure is minimal, and the laparoscopic approach allows for faster recovery, a decreased period of immobility, shorter time to tolerating oral diet and so, decreases the length of hospital stay. Overall, laparoscopic Heller’s cardiomyotomy provides a safe and effective alternative for children presenting with esophageal achalasia [6]. We report the rare occurrence of Achalasia cardia in a 6 month old infant treated by a demanding laparoscopic Heller’s cardiomyotomy with Dor’s anterior fundoplication.

 

References

1)      Angkoolpakdeekul, Theerapol T; Jakapark, Suriya S (2007)  Laparoscopic Heller myotomy with dor antireflux for achalasia. J Med Assoc Thai. 90(5): 988-93.

2)      Lake JM, W. R. “Review article: the management of achalasia (2006) A comparison of different treatment modalities.” Aliment Pharmacol Ther. 24: 909-18.

3)      Palanivelu C, M. G., Jani K, Parthasarthi R, Sendhilkumar K, Rangarajan M. (2007). “Minimally invasive management of achalasia cardia: results from a single center study.” JSLS. 11: 350-7.

4)       Nomura T, M. M., Makino H, Okawa K, Iwakiri K, Tajiri T. (2008). “Usefulness of the laparoscopic Heller-Dor operation for esophageal achalasia: introducing the procedure to our institution.” J Nippon Med Sch. 75: 207-11.

5)      Esposito C, M.-S. M., Roblot Maigret B, Amici G, Desruelle P, Montupet P. (2000). “Complications of laparoscopic treatment of esophageal achalasia in children.” J Pediatr Surg. 35: 680-3.

6)      Wang QS, L. L., Dong L, Shen ZL, Zhou DH, Hu CX. (2006). “Laparoscopic Heller-Dor operation for patients with achalasia.” Chin Med J (Engl). 119: 443-7.

 

About the Authors:

Prakash Agarwal, Professor, Department of Pediatric Surgery, Sri Ramachandra University, Porur, Chennai – 600116.

R.K.Bagdi, Ex Professor, Department of Pediatric Surgery, Sri Ramachandra University, Porur, Chennai – 600116.

S. Balagopal, Professor, Department of Pediatric Surgery, Sri Ramachandra University, Porur, Chennai – 600116.

R Madhu, Associate Professor, Department of Pediatric Surgery, Sri Ramachandra University, Porur, Chennai – 600116.

P. Balamourougane, Associate Professor, Department of Pediatric Surgery, Sri Ramachandra University, Porur, Chennai – 600116.

Moorthy G,Assistant Professor, Department of Pediatric Surgery, Sri Ramachandra University, Porur, Chennai – 600116.

Manoj kumar, Senior resident, Department of Pediatric Surgery, Sri Ramachandra University, Porur, Chennai – 600116.

 

Corresponding author:, 

Dr. Prakash Agarwal

F-31, H block,

Jains Avantika Apartments,

Manapakkam, Chennai – 600116

Phone- +91-9840114749

E mail: agarwal_prakash@hotmail.com

 

Fetal Cardiac Examination – Dr Sameer Dikshit

17 Oct
About the Author:

Dr.Sameer Dikshit, MD, DGO, FCPS,FICOG

A fetal medicine consultant of vast practical experience. Trained at prestigious King’s College London.

Contact: drsameerd@gmail.com

Website: www.birthdefects.in (Powered by Websites For Doctors)

EFFECTS OF SOCIOECONOMIC STATUS ON THE NUTRITIONAL AND HEALTH STATUS OF ELEMENTARY SCHOOL CHILDREN

14 Sep

EFFECTS OF SOCIOECONOMIC STATUS ON THE NUTRITIONAL AND HEALTH STATUS OF SELECTED ELEMENTARY SCHOOL CHILDREN AGED 6 – 10 YEARS IN RAMANATHAPURAM DISTRICT OF TAMILNADU STATE.

 INTRODUCTION:-

         

Children are the future leaders of a community and the true welfare of a community depends upon their health and welfare. As pointed out in our National Policy for Children 1974, the Nation’s children are its supreme asset. The future well being of a nation depends upon how best its children grow and develop.

Socioeconomic status is one of many terms used to characterize social stratification, and it is often used synonymously with socioeconomic position and social class. The body of evidence linking socioeconomic status with health outcomes is large and invariably suggests that higher socioeconomic status levels are almost always positively associated with health-protective behaviours and negatively associated with health-impeding behaviours ( K.Viswanath, Kathleen Bond, 2007 ).

According to B.C. Muthaiyya (1991) the children from rural homes have parents who are illiterate and to that extent, are deprived of intellectual environment in their homes. Ignorance, coupled with illiteracy and poverty, can become a serious environmental lack, contributing to the disadvantage of the growing child.

Nutrition in childhood is the basis for survival and good health in adulthood. Inadequate nutrition in childhood may lead to malnutrition, growth retardation, reduced work capacity and poor mental and social development. Childhood nutrition has a significant influence on health and development throughout life. As children grow, their nutritional needs are much greater than those of adults and the consequences of a poor diet will be long-lasting. A good diet will protect against everyday illness and ensure the development of strong bones and teeth, firm muscles and healthy tissues (Mangala Kango, 2003).

The characteristics of good nutritional status are an alert, good-natured personality, a well-developed body, with normal weight for height, well-developed and firm muscles, healthy skin, reddish-pink colour of eyelids and membranes of mouth, good layer of subcutaneous fat, clear eyes, smooth and glossy hair, good appetite and excellent general health. General good health is evident by stamina for work, regular meal times, sound regular sleep, normal elimination and resistance to disease.

Poor nutritional status is evidenced by a listless, apathetic or irritable personality, undersized, poorly-developed body, abnormal body weight, small and flabby muscles, pale or sallow skin, too little or too much subcutaneous fat, dull or reddened eyes, lusterless and rough hair, poor appetite, lack of vigour and endurance for work and susceptibility to infections. Poor nutritional status may be the result of poor food selection, irregularity in schedule of meals, work, sleep and elimination ( Sumati K Mudambi, M.V. Rajagopal, 2003).

Large segments of the world’s population, particularly the poor, are known to be undernourished in a number of micronutrients (Joyce C McCanne and Bruce N Ames, 2007). Malnutrition is also caused by a number of related factors, such as social and economic condition of the family, poverty, ignorance, superstition, lack of food, poor environmental sanitation, undesirable social customs and traditional prejudices (Sharma, 1980). Malnutrition in poorly-fed areas of the world is a complex situation in which adverse effects of nutrient shortage are compounded by many other conditions. (Ercel Epright, 1986).

The nutritional status of the children has been found to be associated with the educational levels of the parents, per capita income of the family,  family size, parity and feeding pattern (with or without supplementation) (ICMR 1983-84). Food consumption is closely related to economic position of an individual or his family, with low-income families’ consumption being low (Evanson, 1980).

According to WHO criteria, fifty-two percent of young children in underdeveloped countries are considered normal, while 48% of them are malnourished and 10% of them are severely malnourished. Assessment of nutritional status of an individual is important and approach to nutritional assessment involves anthropometric observations, biochemical tests, clinical observations and diet evaluation.

 

PURPOSE OF THE STUDY:-

         

          The main objective of the present study is to probe in to the effects of various socioeconomic factors on the nutritional and health status of children aged 6 – 10 years, residing in Ramanathapuram district of  Tamilnadu, State.

 

METHODS AND MATERIALS:-

The study was conducted in ten Government and ten Matriculation schools. One hundred students were randomly selected from the ten schools in each stream, making the total sample size two hundred. Ten students were randomly selected from each of the ten schools (Government and Matriculation streams). The students were aged 6 – 10 years and were drawn from standard I to standard V of each school. Two students per class (one boy and one girl) were selected randomly, for the execution of the present study.

Detailed information required for the study was gleaned with the help of an interview schedule. Parents’ education, occupation, income-level and budgetary provision for each category such as food, clothing, education, house, medicine, fuel and energy, transport, recreation and savings were collected, to assess the socioeconomic background of each family. Dietary nutrient intake was assessed by the food weighment survey, for three consecutive days. The nutritional and health status was assessed by four parameters such as, nutrient intake, anthropometric measurements, body mass index and haemoglobin level. The ingredients and the respective quantities taken were recorded and their nutrient intake for energy, protein, fat, calcium, iron, vitamin A and vitamin C, were calculated. The heights and weights were carefully recorded and BMI was calculated. Blood samples were obtained from the respondents by finger-prick method and analysed, using the cyanomethaemoglobin method.

RESULTS AND DISCUSSION:-

         The data collected from the respondents have been presented in Tables I to XI.

 TABLE I

Fathers’ educational status

Fathers education

Government school

Matriculation school

Primary school

33

25

Middle school

21

17

High school

25

10

Higher sec. school

14

23

Graduate

7

25

Total

100

100

Twenty five percent of the Matriculation school children’s fathers were found to be graduates, while only seven percent of Government school children’s fathers were seen to be graduates. Being graduates, they wanted their children to study more than what they have studied, they claimed.

                                   TABLE II

                     Fathers’ occupational status

Fathers occupation

Government school

Matriculation school

Small entrepreneur

37

21

Farmer

20

29

Private worker

20

27

Government worker

23

23

Total

100

100

The main occupation of the people living in the selected area of study is agriculture. Most of the families migrate from their villages to the town area seeking more earnings in other pursuits, apart from agriculture, for their children’s studies. A majority (29%) of selected respondents’ fathers of Matriculation school respondents were found to be farmers. As they were land owners they seem to have the ability to spend for education in Matriculation schools. A large number of the fathers (37%) of Government school children were found to be small entrepreneurs. They found it difficult to run their families owing to severe competition in their villages. Twenty- three percent of fathers from both streams (Government and Matriculation schools) were found to be government employees. The difference is their cadre of job. Government school children’s fathers were found in lower-cadre jobs, like sweepers, scavengers etc.

TABLE III

Fathers’ income

Fathers Income

Government school

Matriculation school

Below 4500

66

38

4501- 6000

24

39

Above 6000

10

23

Total

100

100

Twenty-three percent of Matriculation school children’s fathers were seen to earn salaries above Rs.6000 whereas, only ten percent of fathers of Government schools were seen to earn above Rs.6000. Most of the fathers of Government school children (66%) earned below Rs.4500, while only 38% of Matriculation school fathers were found to earn below Rs.4500. The above table clearly reflects that education and income are interrelated.

TABLE IV

Mothers’ educational status

Mothers education

Government school

Matriculation school

Primary

38

23

Middle school

9

25

High school

34

29

Higher sec. school

12

8

Graduate

5

15

Total

90

100

Thirty-eight percent of Government school children’s mothers had studied only upto the primary level, whereas twenty-nine percent of Matriculation children’s mothers were found to be high school passed individuals. As Matriculation school mothers seem to be higher in their educational levels, they seem to desire that their children should study more than what they had studied. Fifteen percent of Matriculation school children’s mothers have studied upto degree level, in contrast, only five percent of Government school children’s mothers were graduates.

TABLE V

Mothers’ occupational status

Mothers occupation

Government school

Matriculation school

House wife

56

36

Small entrepreneur

7

8

Farmer

19

23

Private worker

10

13

Government worker

8

20

Total

100

100

Most of the mothers of Government and Matriculation school children, 56% and 36%, respectively, were found to be housewives. Twenty percent of Matriculation school children’s mothers were found to be Government employees, whereas, only 8% of Government school children’s mothers were government employees.

TABLE VI

Mothers’ income

Mothers Income

in Rs.

Government school

Matriculation school

No Income

56

38

Below 4500

17

3

4501- 6000

22

32

Above 6000

5

29

Total

100

100

As most of the mothers of both the streams (Government and Matriculation) were housewives, they have no income of their own. When we observe the income-levels, twenty-nine percent of Matriculation school children’s mothers were seen to earn above 6000 Rupees while twenty-two percent of Government school children’s mothers earned between Rs.4501 – 6000. A meagre percent (5%) of Government school children’s mothers were found to earn above Rs.6000 while three percent of Matriculation school children’s mothers earned below Rs.4500.

TABLE VII

Expenditure Pattern.

Expenditure

in %

GovernmentSchool

MatriculationSchool

Mean

SD

Mean

SD

% in Food% in Clothes% in Education

% in House rent

% in Medicine

% in Fuel and Electricity

% in Transport

% in Recreation

% in Savings

43.27

14.04

7.66

11.40

11.88

5.19

8.12

4.93

5.74

6.30

4.47

3.58

2.47

6.35

0.95

2.81

0.36

2.06

43.93

13.77

8.25

11.17

10.97

5.16

8.83

5.00

5.00

5.41

3.92

2.86

2.71

6.15

0.87

2.12

0.00

0.00

In agricultural families of Government school children , the produce from their fields were sold and from these proceeds they bought the variety of rice they want, various vegetables, health drinks and every food item they need. In the case of joint families, during festival times Government school families seem to spend more on clothing, when compared with Matriculation school families.

As most of the mothers in Government school families were housewives, they seem to use electricity continuously as they were at home. In view of kerosene being available in insufficient quantities for preparation of food they were compelled to buy it at higher rates.

The mean expenditure on medical expenses, for the families of  Government school children was around 11.88%. This increase was perhaps, due to their food habits and unhygienic practices. In the case of Matriculation schools the mean value for medical expenses was found to be 10.97% because of parents’ carelessness in dietary practices and absence of regular health checkup for their children.

Parents of Matriculation school children were found to spend higher percentages of their income on their children’s education. While Government school children’s families spent more on transport as their residences were far from the purchasing area. This was the reason for their higher expenditure on transport. Parents of Matriculation school children’s families were able to allot a certain amount for recreation due to their children’s compulsion. Government schools children’s families also seem to allot amounts for recreation. The parents of respondents from both the streams (Government schools & Matriculation schools) were seen to be concerned about savings. Though the Government school children’s parents’ incomes were found to be lower, their expenditure on various items were also lower; hence, they seem to have better opportunities to save for their future.

TABLE VIII

Nutrient Intake.

Nutrient Intake

GovernmentSchool

MatriculationSchool

Mean

SD

Mean

SD

EnergyProteinFat

Calcium

Iron

Vitamin A

Vitamin C

 

1577.38

32

20.22

380.65

18.74

1889.44

33.08

255.66

7.96

3.14

54.80

4.05

313.81

3.80

1793.07

39.86

22.89

386.46

19.82

1963.89

33.87

302.29

9.64

4.23

56.27

4.33

328.15

4.02

With respect to energy, protein and fat intake there was significant difference between children from Government schools and their counter parts from Matriculation schools. Compared to Government school children Matriculation school children seemed to have a better intake of nutrients viz. calories, protein and fat. However there, was no significant difference between Government school children and Matriculation school children, with respect to the intake of calcium, iron, vitamin A and vitamin C.

TABLE IX

Body mass index

BMI Group

GovernmentSchool

MatriculationSchool

CED Grade III

58

42

CED Grade II

25

21

CED Grade I

15

28

Low weightNormal

2

6

Normal

3

Total

100

100

Three percent of Matriculation school children had normal BMI whereas none of the Government school children was found to have normal BMIs. Fifteen percent, twenty-five percent and fifty-eight percent of Government school children were found to be belonged to grade I, II and III categories of Chronic Energy Deficiency (CED), respectively, while only six percent of the Matriculation school children were found to be below the normal weight for their age and sex.

TABLE X

Haemoglobin Level

Haemoglobin Level

mg/dl

GovernmentSchool

MatriculationSchool

Below 7

31

18

7 – 10

56

51

10 – 12

13

31

Total

100

100

 

A majority of Government school children (56%) and Matriculation school children (51%) had haemoglobin levels ranging from 7 to10mg/dl. Thirty-one percent of Government school children had haemoglobin levels below 7mg/dl, whereas, the same percent of Matriculation school children had haemoglobin levels ranging from 10-12mg/dl. It appeared, therefore, that children studying in Matriculation schools had better intakes of vegetables, fresh fruits, dried fruits or whole grain cereals than their counterparts from the Government stream.

 

SUMMARY AND CONCLUSIONS :-

From the data discussed above, it may be concluded that socioeconomic conditions are closely related to the nutritional status of children. This is proved by comparing incomes of parents with the Body Mass Indices of their children. Though only twenty-three percent of fathers and eight percent of mothers of Government school children were Government employees, they preferred Government school education for their young children. The Noon meal programme appeared to play a significant role in meeting the nutritional needs of Government school children. The meals served to the children appeared to be sufficient, quantitatively. However, in terms of quality, some more changes are needed both, in the food preparation methods used and the types of foods included. Organizers of the Noon meal Programme must be more concerned about the quality of food and enable the children to get the nutrients needed, for their well-being. In the case of Matriculation school children, the availability of a variety of foods is more but their preparations seemed to be monotonous; this leads to the children’s dislike of certain foods. Knowledge about their children’s food tastes and preferences, besides their requirements and the way to meet them, should be taught to the parents. Dietary counseling services to advise and guide parents regarding the dietary needs of their children and planning suitable menu patterns for use in schools, may be organised as an integral part of the Health and Nutrition Counseling  centre of each school.

REFERENCES

1. Ercel epright, ( 1986 ), “Teaching Nutrition” II edition, The IOWA U.S.A.,pp 243 – 245.

2. Evanson, ( 1980 ), “Just me the kids”, A study of single parent families inNorthern Ireland, Berlit F.O., P131.

3. Joyce cMc Cann and Bruce N.Ames, 2007, An overview of evidence for a causal relationship between iron deficiency during development and deficits in cognitive or behavioral function, American journal of Clinical nutrition 85.931 – 45.

4. K.K.Viswanath, Kathlean bond, 2007. Social determinants and nutrition; Reflecting on the role of communication Journal of Nutrition education and Behavior vol -39, no-25 March/April 2007.

5. Mangala Kango, (2003), “Normal Nutrition Fundamental and Management”, RBSA publishers, Jaipur, Pp.255.

6. Muthaiya B.C, ( 1991 ), “The disadvantaged children”, C.D.R. Digest pp 54 – 57.

7. Sharma, ( 1980), “Child mortality and morbidity in a rural community Social welfare, Vol 83, No.4 pp 4 – 6.

8. Sue Rodwell Williams, ( 1989 ), Nutrition for growth and devt: Infancy, Childhood and Adolescence, Nutrition and Diet therapy, times mirror/Mosby college publishing,Boston, Page-506-507.

9. Sumati K Mudambi, M.V. Rajagopal, 2003. “Meal Planning for School Children and Adolescents”, Fundamental of foods and nutritio,n fourth edition, New age International publishers, Pp-1-6.

About the Author:

N.JEBA SOWPACKIA RANI

Ph.D in Foods and Nutrition (On Going)

Sri Meenakshi Arts and science college for Women,Madurai

Contact Email: solomonjeba2@gmail.com

PRENATAL DIAGNOSTIC TESTING IN ANEMIA

26 Aug

Prenatal diagnostic testing involves testing the fetus before birth to determine whether the fetus has certain abnormalities, including certain hereditary or spontaneous genetic disorders. Kan and Dozy carried out the first prenatal DNA diagnosis in 1978 for sickle cell anemia, and since then a lot has changed in the scenario of prenatal diagnosis in maternal anemia. Beta thalassemia is one of the conditions in which prenatal diagnostic testing is gaining popularity in India.

There are various forms of Thalassemia in the mother.

α Thalassemia is characterised by deletion or inactivation of α globin alleles. As a result the α globin chains’ production is affected. Deletion of all 4 alleles results in Hb Bart syndrome, deletion of 3 alleles results in Hb H disease. When 2 alleles are inactive results in α0 Thalassemia and when only one allele is inactive, the condition is called α1 Thalassemia. There are two clinically significant forms: Hb Bart syndrome and Hb H disease. Hb Bart syndrome is more severe and is usually lethal while Hb H disease is mild. α0 Thalassemia is clinically seen as α Thalassemia trait  and α1 Thalassemia is clinically seen as α Thalassemia silent carrier.

Genetic counseling. Alpha-thalassemia is usually inherited in an autosomal recessive manner.

Hb Bart Syndrome:- At conception, each sib of an individual with Hb Bart syndrome has a 25% chance of having Hb Bart syndrome, a 50% chance of having αº-thalassemia (α-thalassemia trait), and a 25% chance of being unaffected and not a carrier. Once an at-risk sib is known to be unaffected, the risk of his/her having αº-thalassemia (α-thalassemia trait) is 2/3.

HB H Disease:-At conception, each sib of an individual with HbH disease has a 25% chance of having HbH disease, a 25% chance of having αº-thalassemia (α-thalassemia trait), a 25% chance of having α+-thalassemia (α-thalassemia silent carrier), and a 25% chance of being unaffected and not a carrier. Once an at-risk sib is known to be unaffected, the risk of his/her having either αº-thalassemia (α-thalassemia trait) or α+-thalassemia (α-thalassemia silent carrier) is 2/3. Each child of an individual with HbH disease inherits the mutation for either αº-thalassemia or α+-thalassemia and is thus an obligate heterozygote.

Family members, members of ethnic groups at risk, and gamete donors should be considered for carrier testing. Couples who are members of at-risk populations for αº-thalassemia carrier status can be identified prior to pregnancy to avoid conceiving a fetus with Hb Bart syndrome. Prenatal testing may be carried out for couples who are at high risk of having a fetus with Hb Bart syndrome or for a pregnancy in which one parent is a known αº-thalassemia carrier and it is unknown whether the other parent has the mutation.

β Thalassemia is characterised by inactivation or deletion of β globin alleles. This results in variable dysfunction of βglobin chain production.

Clinically, β Thal major is characterised by severe anemia with dependence on blood transfusion; β Thal Intermiadia is characterised by milder forms of anemia and β Thal minor are carriers of the trait.

Genetic counseling. The β-thalassemias are inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Heterozygotes may be slightly anemic but are clinically asymptomatic. Carriers are often referred to as having thalassemia minor (or β-thalassemia minor). Carrier testing for individuals at risk (including family members, gamete donors, and members of at-risk populations) is possible. Prenatal testing for pregnancies at increased risk is possible if the disease-causing mutations in the family are known.

Common Indian mutations β Thalassemia are:-IVS-1-5 (G→C), IVS-1-1 (G→T), codons 8/9 (+G), codons 41/42(-CTTT) and 619 base pair deletion.

Population screening conducted in past years in Indian population2 has helped to recognize certain communities like Sindhis, Gujaratis, Bengalis, Punjabis and Muslims with high prevalence of β-Thalassemia.

Prenatal Screening:-

The population to screen includes those groups who have high incidence of β Thalassemia, parents of a previous affected sib , a pregnancy with known β Thal carrier parent or family history of the disease.

The first step is to screen the mother.The most feasible option in our view is to test the mothers antenatally in early pregnancy preferably in the first trimester. The parents are often receptive and would usually agree to get any tests done for the well being of their baby. If the mother is found to be a carrier, her husband can be tested for carrier status and if he is also a carrier, prenatal diagnosis can be offered after proper genetic counselling.

1. Red Cell Indices

Red cell indices obtained through standard electronic cell counters provide valuable tool for preliminary screening of thalassemic traits. Thalassemic traits in general have reduced mean corpuscular volume (MCV) and reduced mean corpuscular hemoglobin (MCH) with normal mean corpuscular hemoglobin concentration (MCHC). Specific cut off points for each index varies from laboratory to laboratory. Some laboratories concentrate on both reduced MCV and MCH and some on MCV or MCH alone. When either MCV or MCH was considered for carrier status, sensitivity and specificity is less. Hence, selection of both MCV (<77 fl) and MCH (<27 pg) is ideally suited for further rapid confirmation of carrier status. Low MCV or MCH sometimes poses a problem by giving false positive results due to iron deficiency anemia or other nonthalassemic microcytosis. Various formulae like Bessman index, Shine and Lal index, England index, Mentzler index are used as good indicators to differentiate between thalassemic and nonthalassemic microcytosis.

2. Naked Eye Single Tube Red Cell Osmotic Fragility Test (NESTROFT)

All laboratories do not have the facility of electronic cell counters to measure red cell indices. In such cases NESTROFT, a rapid, simple and cost effective screening test could be used. The principle of NESTROFT is based on the limit of hypotonicity which the red cell can withstand. In this procedure 2 ml of 0.36% buffered saline is taken in a test tube, 20ml of whole blood is added to it, and is allowed to stand at room temperature. After 20 minutes reading is taken on a NESTROFT stand on which a thin black line is marked. If the line is visible through the solution, the test is considered as negative and if line is not visible it is considered as positive. Positive test is due to the reduced osmotic fragility of red cells.

It has a sensitivity ranging from 94 to 99 per cent  Th sensitivity specificity, positive predictive and negative predictive values of NESTROFT were reported to be 91%, 95%, 55% and 99% respectively. A lower positive predictivity suggested false positive results probably due to associated iron deficiency which requires confirmation by estimation of HbA2 levels. Based on high negative predictive values, the use of NESTROFT has been recommended for mass screening due to its low cost and simplicity. Though NESTROFT is a simple and rapid test, combination of NESTROFT and red cell indices increases the sensitivity and negative predictive value to almost 100 per cent.

3. Hemoglobin A2 Estimation

Raised hemoglobin A2 level is the gold standard for diagnosis of thalassemic trait. Subjects found to be positive in preliminary screening test by red cell indices and NESTROFT are confirmed for thalassemic carrier status by HbA2 measurement. Subjects with HbA2 levels of 3.5 per cent and above are considered to have thalassemic trait. However, precautions have to be taken when HbA2 levels fall between 3.3 and 3.8 per cent. In such cases it is recommended to repeat the assay to rule out a technical error while performing the assay.

Once the mother is diagnosed to be having thalassemic trait, father is investigated on similar lines. If both husband and wife are diagnosed to be carrier, the next step is to prevent the birth of thalassemic child by offering prenatal diagnosis and selective abortion of the fetuses affected with thalassemia.

DNA Mutation Analysis in parents

To offer prenatal diagnosis to the couples it is essential to characterize the DNA mutations of the parents. There are various methods available to study DNA mutations such as allele specific oligonucleotide (ASO) screening, reverse dot blot and restriction endonuclease allele recognition. ASO method detects point mutations, nucleotide insertion or deletion in genomic DNA. In this method ASO probes of 18-20 mer sequence are used. DNA is denatured and dot blotted on to a nylon membrane and then hybridized to different probes. In reverse dot blot probes are attached to the membrane and DNA hybridizes with dot corresponding to the mutation. A recent method is amplifica- tion refractory mutation system (ARMS) technique in which specific primers against normal and mutant sequences are used.

More than 150 mutations causing b- thalassemia have been reported from different parts of the world. Studies conducted in India have identified about 28 mutations in Indian population. Of these five to six mutations are found to be common. These include IVS 1-5, 619 bp del, IVS 1-1, frameshift 8-9, 41-42, and codon 15. The type of mutation varies in different ethnic groups with a particular type of mutation being more common in a specific ethnic group. The frequency of mutations in carriers originated from different states in India  varies from region to region with the predominant mutation in most of the states being IVS 1-5. In migrants from West Pakistan the predominant mutation is 619 bp del. Overall common mutations account for 90-93.6 per cent.

Still 5-10 per cent needs further investigations which could be characterized using techniques such as single strand conformation polymorphism (SSCP) and denaturing gradient gel electrophoresis (DGGE). SSCP is based on the mobility shift in a neutral polyacrylamide gel due to conformational change caused by substitution of a base in a single stranded DNA fragment. DGGE is based on the resolution of DNA fragments differing by single nucleotide substitution. Both the methods could be used for detection of rare mutations. This can be followed by sequencing using automated sequencers which are available now. The families where mutations were not characterized could be helped by doing linkage studies.

Prenatal Diagnosis

 Armed with the DNA diagnosis of the parents, one now moves to prenatal testing.

 Fetal DNA analysis could be done by extracting DNA from amniotic fluid after 15 weeks of gestation or chorionic villus samples (CVS) between 10-12 weeks or later gestation. CVS is preferable as the result of prenatal diagnosis are available early in pregnancy. Usual reporting time is about one week. Since its inception in the 1980s, CVS has

gained popularity as a means of rapid prenatal diagnosis in early pregnancy. Its advantages over a second trimester procedure like amniocentesis include reduced emotional and physical stress in couples at risk, a less obvious pregnancy and therefore more privacy.

Termination of pregnancy, if indicated, can be carried out at a safer time in such cases. Old, et al., were the first to report successful diagnosis of beta thalassemia using CVS.

Since then few studies in the West and also from India have demonstrated the

high efficiency, safety and acceptability of this procedure prompting experts to suggest that first trimester CVS should be the gold standard for prenatal diagnosis. This message can be propagated through thalassemia clinics and thalassemia welfare societies who have a major role in the creation of awareness regarding the problem of thalassemia.

The various methods of analysis used are:-

Targeted mutation analysis. The β-thalassemias can be caused by more than 200 different HBB gene mutations ,however, the prevalent molecular defects are limited in each at-risk population. This phenomenon has greatly facilitated molecular genetic testing. Commonly occurring HBB mutations in a specific population(s) can be detected by a number of PCR-based procedures. The most commonly used methods are reverse dot blot analysis or primer specific amplification, with a set of probes or primers complementary to the most common mutations in the population from which the affected individual originated . Other methods based on real-time PCR or microarray technology because of their reproducibility, rapidity, and easy handling are potentially suitable for the routine clinical laboratory .

Sequence analysis detects mutations in the HBB coding region and associated flanking regions.Sensitivity is 99%. Mutations in the non-coding region and heterozygous deletions of an exon(s) or other gene region are not detected by this analysis.

Deletion/duplication analysis. Deletions of variable extent of the HBB gene or of the beta-globin gene cluster that result in β-thalassemia or in the complex β-thalassemias called γδβ-thalassemia and δβ-thalassemia are rare causes of β-thalassemia. Some HBB alleles with deletion mutations can be common in certain ethnic groups (e.g., the 619-bp deletion in Asian Indians; globin.cse.psu.edu).)

Alternate methods:-

DNA diagnosis is usually done on chorionic villus samples at 10-12 weeks gestation in informative families(1,10-12). However, it has certain limitations. There are very few centers for molecular diagnosis and couple has to travel to established center for prenatal sampling and DNA analysis in majority of cases. Moreover, for DNA diagnosis mutations should be detected or the markers should be informative for linkage. Linkage requires sample from the affected hemophilia child, which is not available in all cases. When family comes late in pregnancy and common mutations are not identified in thalassemia, it is not possible to further characterize the unidentified mutation due to time constraints.

In such cases, the diagnosis is made by quantification of Hb A in fetal sample obtained by cordocentesis. Normal foetuses have low but demonstrable levels of Hb A in mid pregnancy. This is reduced in affected foetuses. Thus, this test can be used to diagnose foetuses with Thalassemia where advanced molecular studies are not available.

Serial Sonography for diagnosis of Thalassemia.

1)MCA PSV-

Abnormal MCA PSV is defined as value more than 1.5 MOM for the GA.It is important to emphasize that normal MCAPSV at 18 to 22 weeks reduces the probability that a fetus is affected by the disease and may obviate the need for invasive procedures to confirm normality, although follow-up sonographic examinations may be required. Despite the high accuracy of MCA-PSV, the diagnosis should be confirmed with definitive methods such as fetal blood analysis to exclude false-positive findings, although very infrequent, and hydrops fetalis secondary to other causes. The measurement of MCA-PSV may represent an alternative cost-effective method in identifying cases for referral or follow-up with serial sonography in their own hospitals.

2)Fetal CTR (Cardio thoracic ratio)-

A four chamber view of the heart is obtained. At this level, fetal transverse cardiac  diameter (TCD) was measured. The same plane was used to measure transverse thoracic diameter (TTD). CTR was calculated as TCD/TTD. Cardiomegaly was defined as a CTR ≥0.5 at 12–17 weeks, ≥0.52 at 18–20 weeks and ≥0.59 at 25–30 weeks.

Because affected babies have hydrops and the first sign of hydrops is cardiomegaly. This ratio is used to diagnose thalassemia.

3)Placental Thickness (PT)

The thalassemic babies are associated with placentomegaly. Hence PT is used diagnose thalassemia. Placental thickness is measured at the centre of the placenta. A line is drawn tangential to the margin of placenta and the thickness is measured at right angle to this line. PT > 18 mm at 12-15 weeks is considered significant.

4)Echogenic Bowel

It has been suggested that echogenic bowel in fetuses with homozygous α-thalassemia-1 may be bowel wall edema as a result of anemia and hypoxia. The sequestration of fluid in the bowel wall may give it the echobright appearance.

Serial sonography:-

It has been suggested that MCA PSV > 1.5 MOM, PT >18 mm and CTR >0.5 be used to screen foetuses at risk.

With this approach, invasive procedures could be performed selectively, fewer fetuses would be lost unnecessarily and medical expense could be reduced. Therefore, cordocentesis or amniocentesis should be reserved only for cases with positive sonographic markers, especially high MCA PSV. Although a small proportion of affected fetuses may be missed by this approach, it is possible that they could be detected on serial sonographic examinations because of later hydropic changes.This approach has been used in countries where legal termination of pregnancy is permitted even in advanced gestational age.

References

  • Jackson LG, Zachary JM, Fowler SE. A randomized comparison of transcervical and transabdomial chorionic villous sampling. N Engl J Med 1992; 327: 594-597.
  • Wade RV Young SR. Analysis of fetal loss after transcervical chorionic villous sampling:A review of 719 patients. Am J Obstet Gynecol 1989; 161: 513-516.
  • Saxena R, Jain PK, Thomas E, Verma IC. Prenatal diagnosis of β-thalassemia.

Experience in a developing country. Prenatal Diag 1998; 18: 1-7.

  • Agarwal S, Gupta A, Gupta OR, Sarwai S, Phadke S, Agarwal SS. Prenatal diagnosis in β- thalassemia: An Indian experience. Fetal Diagn Ther 2003; 18: 328-332.
About the Author:

Dr.Sameer Dikshit, MD, DGO, FCPS,FICOG

A fetal medicine consultant of vast practical experience. Trained at prestigious King’s College London.

Contact: drsameerd@gmail.com

Website: www.birthdefects.in (Powered by Websites For Doctors)

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