This document provides information on gastroschisis, a congenital abdominal wall defect. It discusses the following key points:
1. Gastroschisis is characterized by intestines protruding through an abdominal wall defect without a protective sac. It occurs in about 1 in 3,300 births and survival rates are over 90% with treatment.
2. Risk factors include young maternal age, primiparity, smoking, and illicit drug use. Associated issues include intestinal complications, sepsis, and long-term digestive problems.
3. Prenatal diagnosis is possible via ultrasound showing herniated bowel loops. Treatment involves surgical repair of the defect along with intensive neonatal care including antibiotics and nutritional support.
The cystic diseases in various organs were observed in the anatomy and OBG depaartment, in that
the polycystic disease of ovary was very common compared to all other organs cystic diseases.
An investigation-of-fetal-growth-in-relation-to-pregnancy-characteristicsDr Max Mongelli
DM thesis by Dr Max Mongelli. "An Investigation of Fetal Growth in Relation to Maternal Characteristics", based on research carried out at the Perinatal Research and Monitoring Unit at the Queens' Medical Centre in Nottingham, UK. Some of this material formed the basis for the development of the customised fetal growth charts.
An investigation-of-fetal-growth-in-relation-to-pregnancy-characteristicsDr Max Mongelli
A PDF copy of the DM thesis "An Investigation of Fetal Growth in Relation to Maternal Characteristics", based on research carried out at the Perinatal Research and Monitoring Unit at the Queens' Medical Centre in Nottingham, UK. Some of this material formed the basis for the development of the customised fetal growth charts.
The cystic diseases in various organs were observed in the anatomy and OBG depaartment, in that
the polycystic disease of ovary was very common compared to all other organs cystic diseases.
An investigation-of-fetal-growth-in-relation-to-pregnancy-characteristicsDr Max Mongelli
DM thesis by Dr Max Mongelli. "An Investigation of Fetal Growth in Relation to Maternal Characteristics", based on research carried out at the Perinatal Research and Monitoring Unit at the Queens' Medical Centre in Nottingham, UK. Some of this material formed the basis for the development of the customised fetal growth charts.
An investigation-of-fetal-growth-in-relation-to-pregnancy-characteristicsDr Max Mongelli
A PDF copy of the DM thesis "An Investigation of Fetal Growth in Relation to Maternal Characteristics", based on research carried out at the Perinatal Research and Monitoring Unit at the Queens' Medical Centre in Nottingham, UK. Some of this material formed the basis for the development of the customised fetal growth charts.
Hirschsprung Disease - Approach & ManagementVikas V
Hirschsprung Disease. - A developmental Disorder of Intrinsic Component of Enteric Nervous System.
Also known Congenital Megacolon.
This Presentation deals with The eitology, presentation, diagnosis, medical and surgical management & complications of the same.
Food PoisoningNutritional Problems In Pakistan: Their Control And PreventionDrSindhuAlmas
According to WHO, foodborne diseases are mounting up at an alarming rate, causing significant impediment to socio-economic development of a country. Food based outbreak causes mortality of 2.2 million that contributes 4% of all deaths each year worldwide.
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Hirschsprung Disease - Approach & ManagementVikas V
Hirschsprung Disease. - A developmental Disorder of Intrinsic Component of Enteric Nervous System.
Also known Congenital Megacolon.
This Presentation deals with The eitology, presentation, diagnosis, medical and surgical management & complications of the same.
Food PoisoningNutritional Problems In Pakistan: Their Control And PreventionDrSindhuAlmas
According to WHO, foodborne diseases are mounting up at an alarming rate, causing significant impediment to socio-economic development of a country. Food based outbreak causes mortality of 2.2 million that contributes 4% of all deaths each year worldwide.
New Drug Discovery and Development .....NEHA GUPTA
The "New Drug Discovery and Development" process involves the identification, design, testing, and manufacturing of novel pharmaceutical compounds with the aim of introducing new and improved treatments for various medical conditions. This comprehensive endeavor encompasses various stages, including target identification, preclinical studies, clinical trials, regulatory approval, and post-market surveillance. It involves multidisciplinary collaboration among scientists, researchers, clinicians, regulatory experts, and pharmaceutical companies to bring innovative therapies to market and address unmet medical needs.
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Protonitazene (hydrochloride) CAS: 119276-01-6
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These simplified slides by Dr. Sidra Arshad present an overview of the non-respiratory functions of the respiratory tract.
Learning objectives:
1. Enlist the non-respiratory functions of the respiratory tract
2. Briefly explain how these functions are carried out
3. Discuss the significance of dead space
4. Differentiate between minute ventilation and alveolar ventilation
5. Describe the cough and sneeze reflexes
Study Resources:
1. Chapter 39, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 34, Ganong’s Review of Medical Physiology, 26th edition
3. Chapter 17, Human Physiology by Lauralee Sherwood, 9th edition
4. Non-respiratory functions of the lungs https://academic.oup.com/bjaed/article/13/3/98/278874
Knee anatomy and clinical tests 2024.pdfvimalpl1234
This includes all relevant anatomy and clinical tests compiled from standard textbooks, Campbell,netter etc..It is comprehensive and best suited for orthopaedicians and orthopaedic residents.
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Ethanol (CH3CH2OH), or beverage alcohol, is a two-carbon alcohol
that is rapidly distributed in the body and brain. Ethanol alters many
neurochemical systems and has rewarding and addictive properties. It
is the oldest recreational drug and likely contributes to more morbidity,
mortality, and public health costs than all illicit drugs combined. The
5th edition of the Diagnostic and Statistical Manual of Mental Disorders
(DSM-5) integrates alcohol abuse and alcohol dependence into a single
disorder called alcohol use disorder (AUD), with mild, moderate,
and severe subclassifications (American Psychiatric Association, 2013).
In the DSM-5, all types of substance abuse and dependence have been
combined into a single substance use disorder (SUD) on a continuum
from mild to severe. A diagnosis of AUD requires that at least two of
the 11 DSM-5 behaviors be present within a 12-month period (mild
AUD: 2–3 criteria; moderate AUD: 4–5 criteria; severe AUD: 6–11 criteria).
The four main behavioral effects of AUD are impaired control over
drinking, negative social consequences, risky use, and altered physiological
effects (tolerance, withdrawal). This chapter presents an overview
of the prevalence and harmful consequences of AUD in the U.S.,
the systemic nature of the disease, neurocircuitry and stages of AUD,
comorbidities, fetal alcohol spectrum disorders, genetic risk factors, and
pharmacotherapies for AUD.
Lung Cancer: Artificial Intelligence, Synergetics, Complex System Analysis, S...Oleg Kshivets
RESULTS: Overall life span (LS) was 2252.1±1742.5 days and cumulative 5-year survival (5YS) reached 73.2%, 10 years – 64.8%, 20 years – 42.5%. 513 LCP lived more than 5 years (LS=3124.6±1525.6 days), 148 LCP – more than 10 years (LS=5054.4±1504.1 days).199 LCP died because of LC (LS=562.7±374.5 days). 5YS of LCP after bi/lobectomies was significantly superior in comparison with LCP after pneumonectomies (78.1% vs.63.7%, P=0.00001 by log-rank test). AT significantly improved 5YS (66.3% vs. 34.8%) (P=0.00000 by log-rank test) only for LCP with N1-2. Cox modeling displayed that 5YS of LCP significantly depended on: phase transition (PT) early-invasive LC in terms of synergetics, PT N0—N12, cell ratio factors (ratio between cancer cells- CC and blood cells subpopulations), G1-3, histology, glucose, AT, blood cell circuit, prothrombin index, heparin tolerance, recalcification time (P=0.000-0.038). Neural networks, genetic algorithm selection and bootstrap simulation revealed relationships between 5YS and PT early-invasive LC (rank=1), PT N0—N12 (rank=2), thrombocytes/CC (3), erythrocytes/CC (4), eosinophils/CC (5), healthy cells/CC (6), lymphocytes/CC (7), segmented neutrophils/CC (8), stick neutrophils/CC (9), monocytes/CC (10); leucocytes/CC (11). Correct prediction of 5YS was 100% by neural networks computing (area under ROC curve=1.0; error=0.0).
CONCLUSIONS: 5YS of LCP after radical procedures significantly depended on: 1) PT early-invasive cancer; 2) PT N0--N12; 3) cell ratio factors; 4) blood cell circuit; 5) biochemical factors; 6) hemostasis system; 7) AT; 8) LC characteristics; 9) LC cell dynamics; 10) surgery type: lobectomy/pneumonectomy; 11) anthropometric data. Optimal diagnosis and treatment strategies for LC are: 1) screening and early detection of LC; 2) availability of experienced thoracic surgeons because of complexity of radical procedures; 3) aggressive en block surgery and adequate lymph node dissection for completeness; 4) precise prediction; 5) adjuvant chemoimmunoradiotherapy for LCP with unfavorable prognosis.
Title: Sense of Taste
Presenter: Dr. Faiza, Assistant Professor of Physiology
Qualifications:
MBBS (Best Graduate, AIMC Lahore)
FCPS Physiology
ICMT, CHPE, DHPE (STMU)
MPH (GC University, Faisalabad)
MBA (Virtual University of Pakistan)
Learning Objectives:
Describe the structure and function of taste buds.
Describe the relationship between the taste threshold and taste index of common substances.
Explain the chemical basis and signal transduction of taste perception for each type of primary taste sensation.
Recognize different abnormalities of taste perception and their causes.
Key Topics:
Significance of Taste Sensation:
Differentiation between pleasant and harmful food
Influence on behavior
Selection of food based on metabolic needs
Receptors of Taste:
Taste buds on the tongue
Influence of sense of smell, texture of food, and pain stimulation (e.g., by pepper)
Primary and Secondary Taste Sensations:
Primary taste sensations: Sweet, Sour, Salty, Bitter, Umami
Chemical basis and signal transduction mechanisms for each taste
Taste Threshold and Index:
Taste threshold values for Sweet (sucrose), Salty (NaCl), Sour (HCl), and Bitter (Quinine)
Taste index relationship: Inversely proportional to taste threshold
Taste Blindness:
Inability to taste certain substances, particularly thiourea compounds
Example: Phenylthiocarbamide
Structure and Function of Taste Buds:
Composition: Epithelial cells, Sustentacular/Supporting cells, Taste cells, Basal cells
Features: Taste pores, Taste hairs/microvilli, and Taste nerve fibers
Location of Taste Buds:
Found in papillae of the tongue (Fungiform, Circumvallate, Foliate)
Also present on the palate, tonsillar pillars, epiglottis, and proximal esophagus
Mechanism of Taste Stimulation:
Interaction of taste substances with receptors on microvilli
Signal transduction pathways for Umami, Sweet, Bitter, Sour, and Salty tastes
Taste Sensitivity and Adaptation:
Decrease in sensitivity with age
Rapid adaptation of taste sensation
Role of Saliva in Taste:
Dissolution of tastants to reach receptors
Washing away the stimulus
Taste Preferences and Aversions:
Mechanisms behind taste preference and aversion
Influence of receptors and neural pathways
Impact of Sensory Nerve Damage:
Degeneration of taste buds if the sensory nerve fiber is cut
Abnormalities of Taste Detection:
Conditions: Ageusia, Hypogeusia, Dysgeusia (parageusia)
Causes: Nerve damage, neurological disorders, infections, poor oral hygiene, adverse drug effects, deficiencies, aging, tobacco use, altered neurotransmitter levels
Neurotransmitters and Taste Threshold:
Effects of serotonin (5-HT) and norepinephrine (NE) on taste sensitivity
Supertasters:
25% of the population with heightened sensitivity to taste, especially bitterness
Increased number of fungiform papillae
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G6.Gastrosquisis.pdf
1. Gastroschisis
Contents
Synonyms and Related Disorders ................ 1193
Genetics/Basic Defects ............................ 1193
Clinical Features ................................... 1194
Diagnostic Investigations ......................... 1196
Genetic Counseling ................................ 1196
References .......................................... 1197
Gastroschisis (Greek for belly cleft) is a congen-
ital paraumbilical wall defect characterized by the
protrusion of the intestines uncovered by the peri-
toneum. It represents one of the most common
congenital malformations requiring multidis-
ciplinary neonatal intensive care, with an inci-
dence of approximately 1 in 3300 births that
seems to be increasing (Alvarez and Burd 2007).
Synonyms and Related Disorders
Anterior abdominal wall defects (Bladder
exstrophy; Cloacal exstrophy; Limb–body wall
and body-wall complex; Omphalocele)
Genetics/Basic Defects
1. Precise etiology unknown
2. Inheritance
1. Isolated occurrence in most cases (Calzolari
et al. 1995)
2. Rare autosomal dominant inheritance
3. Pathogenesis and risk factors Sharp
et al. (2000); Fillingham and Rankin 2008;
Lammer et al. 2008; Rasmussen and Frias
2008)
1. Pathogenesis
1. Most commonly quoted: Hoyme’s vas-
cular disruption theory with disruption
occurring in the omphalomesenteric
artery (Hoyme et al. 1983)
2. More recent proposed pathogenesis
1. Consequence of abnormal folding of
the body wall (Feldkamp et al. 2007).
2. Disruption of endothelial oxide
synthase pathway (its relationship to
vasculogenesis) by environmental
exposures or by genetic variation
may represent one pathogenetic
model for gastroschisis (Lammer
et al. 2008).
2. Risk factors (Torfs et al. 1994)
1. Vascular insult
1. Association of maternal smoking
and maternal cocaine use with an
increased incidence of gastroschisis
2. The association of intestinal atresia
and gastroschisis (Luck et al. 1985)
2. Premature atrophy or abnormal persis-
tence of the right umbilical vein
3. In utero rupture of a hernia of the
umbilical cord
# Springer Science+Business Media LLC 2017
H. Chen, Atlas of Genetic Diagnosis and Counseling,
DOI 10.1007/978-1-4939-2401-1_102
1193
2. 4. Young maternal age (<20 years of age)
(Baer et al. 2015): the most striking
epidemiological association with
gastroschisis (20–25%)
5. Primiparous mothers
6. Socially disadvantaged mothers
7. Use of vasoactive drugs (e.g., decon-
gestant pseudoephedrine) early in
pregnancy
8. Use of aspirin and decongestants
9. Recreational (illicit) drug use (particu-
larly the use of more than one drug)
10. Low socioeconomic status
11. Maternal nutrition
12. Living in close proximity to landfill
sites
13. Other novel risk factors
1. Prior history of gynecological infec-
tion/disease
2. Change of paternity
3. Paternal age
4. Rare syndrome association
1. Omphalocele-exstrophy-imperforate anus-
spinal defects (OEIS)
2. Amniotic band syndrome
3. Limb–body wall complex
5. Rare association with chromosome
abnormalities
1. Trisomy 21
2. Trisomy 13
Clinical Features
1. Herniation of abdominal contents
1. Through a small abdominal wall defect
1. Lateral to the insertion of the umbilical
cord
2. Most often to the right side of the umbil-
ical cord
2. Without covering sac
3. The herniated viscera floating freely in the
amniotic cavity
4. Rare extrusion of the liver
5. Dilatation of bowel loops due to partial
lymphatic and venous obstruction when
they are mechanically compressed against
the sidewall of the defect
6. Massive dilatation of the bowel secondary
to volvulus, atresia, and ischemia
2. The incidence of associated anomalies rela-
tively infrequent except associated gastrointes-
tinal anomalies (10–20%)
1. Intestinal stenosis/atresia, often related to:
1. Intrauterine volvulus
2. Strangulation of the blood supply to the
extruded segment of intestine at the
extremely tight abdominal wall defect
2. Adhesions
3. Malabsorption
4. Meckel diverticulum
5. Protein-losing enteropathy
6. Midgut volvulus
7. Necrosis
8. Severe short gut syndrome
9. Hypoperistalsis
3. Prognosis and complications
1. Oligohydramnios
1. Associated with a high incidence of
intrauterine growth retardation which
occurs in up to 60% of affected fetuses
2. Possible secondary effects of severe
oligohydramnios
1. Pulmonary hypoplasia
2. Limb compression
3. Cord compression
2. Polyhydramnios probably associated with
reduced bowel motility or bowel
obstruction
3. Fetal distress during labor
4. IUGR (Fries et al. 1993)
5. Small for gestational age (Chescheir
et al. 1991)
6. Prematurity
7. Sepsis
8. Bowel damage
9. Cardiac anomalies
10. Nongastrointestinal-associated anomalies
including occasional occurrence of
amyoplasia and arthrogryposis
11. Problems with absorptive and motility
functions
12. Intraoperative complications
1194 Gastroschisis
3. 13. Greater than 90% survival rate (Baerg
et al. 2003)
14. Higher mortality rate (50%) associated
with herniation of the liver
15. Rare reports of spontaneous resolution of
gastroschisis and closure of the anterior
abdominal wall defect (Tawil et al. 2001)
4. Intrauterine fetal death rate: 10–15%
(Brantberg et al. 2004)
5. Outcomes in neonates with gastroschisis in US
children’s hospitals (Lao et al. 2010)
1. Critical comorbidities and procedures
1. Cardiovascular defects (15%)
2. Pulmonary conditions (5%)
3. Intestinal atresia (11%)
4. Intestinal resection (12.5%)
5. Ostomy formation (8.3%)
2. Factors associated with mortality
1. Large bowel resection (odds ratio 8.26)
2. Congenital circulatory disease (odds
ratio 5.62)
3. Pulmonary disease (odds ratio 8.22)
4. Sepsis (odds ratio 3.87)
3. Factors associated with sepsis
1. Intestinal ostomy (odds ratio 2.94)
2. Respiratory failure (odds ratio 2.48)
3. Congenital circulatory anomalies (odds
ratio 1.58)
4. Necrotizing enterocolitis (odds ratio
4.38)
6. Differential diagnosis (Nichol et al. 2008)
1. Omphalocele
1. Characterized by its involvement of the
cord insertion and surrounding membrane.
2. The distinction is important given the
higher risk for chromosomal and other
anomalies in omphalocele.
3. The rare finding of a ruptured
omphalocele may be very difficult to
distinguish from a gastroschisis in utero
(Bair et al. 1986).
4. Characteristics of omphalocele
(Christison-Lagay et al. 2011)
1. Sac: present
2. Associated anomalies: common
3. Location of defect: umbilicus
4. Maternal age: average
5. Mode of delivery: cesarean/vaginal
6. Surgical management: not urgent
7. Prognostic factors: associated
anomalies
5. Characteristics of gastroschisis
(Christison-Lagay et al. 2011)
1. Sac: absent
2. Associated anomalies: uncommon
3. Location of defect: right of the
umbilicus
4. Maternal age: younger
5. Mode of delivery: vaginal
6. Surgical management: urgent
7. Prognostic factors: condition of the
bowel
2. Limb–body wall and body-wall complex
1. Both may involve defects of the ventral
body wall, often large and asymmetric,
and often involving multiple organs
including the liver.
2. The lack of a free-floating umbilical cord
and scoliosis, with or without limb
defects, will suggest this diagnosis.
3. Amniotic band syndrome
1. Amniotic band syndrome is often diffi-
cult to distinguish from body-wall
complex.
2. Frequently, will also involve severe
anomalies of the craniofacial area.
3. Like limb–body wall complex, may
involve adhesion to the placenta.
4. Bladder exstrophy (Glasser 2015; Khan
2015)
1. May present as an external, well-defined,
solid or complex mass immediately
superior to the fetal genitalia
sonographically
2. Prolonged and repeated scans fail to
reveal the fetal bladder.
3. The renal collecting system and ureters
need not be dilated and unilateral or
horseshoe kidneys may be found.
4. Uterine and adnexal anomalies are rela-
tively frequent.
5. The pubis is abnormally wide.
6. Umbilical cord insertion may be
abnormal.
Clinical Features 1195
4. 5. Cloacal exstrophy (Glasser 2015; Khan
2015)
1. Consists of a low omphalocele, bladder
or cloacal exstrophy, and, frequently,
other caudal anomalies, including
meningomyelocele anal atresia and
lower limb anomalies
2. A single umbilical artery in most
affected fetuses
3. Sonographic findings include a low ante-
rior abdominal mass below the umbilical
cord that is associated with an absent
urinary bladder.
Diagnostic Investigations
1. Routine blood work
2. Chromosome analysis rarely indicated (inci-
dence of chromosomal anomalies <5%)
3. Abdominal radiography
4. Abdominal ultrasound
5. Gastrointestinal investigations to rule out gas-
troesophageal reflux, abnormal intestinal
absorption and motility, and Hirschsprung
disease
6. Echocardiography
Genetic Counseling
1. Recurrence risk
1. Patient’s sib: The sibling recurrence risk is
estimated to be 3.5% (familial occurrence of
gastroschisis has been reported) (Torfs and
Curry 1993) unless a parent is affected with
an autosomal dominant disorder.
2. Patient’s offspring: The offspring recur-
rence risk is not increased unless the patient
is affected with an autosomal dominant
disorder.
2. Prenatal diagnosis
1. Elevated maternal serum alpha-fetoprotein
(MSAFP): MSAFP levels are greater in
gastroschisis than in omphalocele
(Palomski et al. 1988)
2. Prenatal ultrasonography
1. 2D ultrasonography followed by 3D
ultrasonography can be useful for more-
efficient counseling and postnatal thera-
peutic planning (Bonilla-Musoles
et al. 2001)
2. Demonstration of a mass adjacent to the
anterior ventral wall representing the
herniated viscera
3. Herniation almost always exits through
the right rather than the left lower
quadrant.
4. Cord vessels observed to the left of the
exiting bowel
5. Dilated bowel loops within or outside the
abdomen observed when the abdominal
wall defect is small
6. Possible evisceration of stomach
7. Possible evisceration of the urinary blad-
der with secondary hydronephrosis
8. Polyhydramnios associated with bowel
obstruction
9. Gastroschisis can be prenatally diag-
nosed at 1st trimester (Cerekja
et al. 2012)
3. Amniocentesis
1. Elevated amniotic fluid alpha-
fetoprotein
2. Positive acetylcholinesterase in
gastroschisis but not omphalocele
(Saleh et al. 1993)
3. Chromosome analysis
3. Management (Langer et al. 1987)
1. Counseling of parents (Hunter and
Soothill 2002)
1. Inform 5–10% incidence of fetal or
neonatal death
2. Inform long-term digestion problems
associated with short gut syndrome
2. No clear evidence indicating early cesar-
ean section improves the outcome (Kirk
and Wah 1983; Stringer et al. 1994; Segel
et al. 2001)
3. Requires multidisciplinary NICU care
(Mills et al. 2010)
1. Despite a high probability of survival
(long-term survival rate over 85%)
(Weber et al. 2002), gastroschisis
babies and their families face a
1196 Gastroschisis
5. prolonged hospitalization with the
potential for significant long-term mor-
bidity, especially that related to
impaired capacity for enteral nutrition
leading to cholestatic liver disease
2. Potential need for organ transplantation
4. Endotracheal intubation for respiratory
distress in neonates
5. Avoid hypothermia, hypovolemia, and
sepsis
6. Fluid and electrolyte balance to prevent
metabolic acidosis commonly observed
as a result of poor perfusion related to
hypovolemia
7. Insertion of an orogastric tube
1. To prevent air swallowing
2. To aspirate intestinal contents
8. Parenteral antibiotics
9. Surgical repair: primary repair versus
staged repair with silastic silo
10. Total parenteral nutritional support for
prolonged adynamic ileus (Baerg
et al. 2003)
11. Potential need for organ transplantation
(Mian et al. 2008)
12. Risks of prematurity must be weighed
against the potential advantages of pre-
term delivery for infants with gastroschisis
(Langer et al. 1993)
13. Early delivery is associated with
prolonged enteral feeds/length of hospital
stay, suggesting elective delivery at
<37 weeks is not beneficial (Carnaghan
et al. 2014).
14. Prenatal repair of gastroschisis (Luo
et al. 2015)
1. The ex utero intrapartum treatment pro-
cedure: performed to ensure fetal oxy-
gen supply, which was likely to be
compromised by the deep fetal
anesthesia.
2. The gastroschisis can be successfully
repaired before the neonate is
delivered.
3. Maternal hemodynamics can be kept
stable during this surgical procedure.
4. The prenatal repair of abdominal wall
defect is safe for the mother and the
fetus, which could potentially improve
the neonatal outcomes.
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1198 Gastroschisis
7. Fig. 1 A premature neonate had herniation of gastric
antrum, small intestine, and colon through the gastroschisis,
right of intact umbilicus. There was malrotation of the
intestine
Fig. 2 A stillborn with
gastroschisis showing
herniation of abdominal
contents
References 1199