Pediatric Surgery Malformations in children classroom and extracurricular job VI course for students higher educational institutions of III-IV accreditation icon

Pediatric Surgery Malformations in children classroom and extracurricular job VI course for students higher educational institutions of III-IV accreditation




НазваPediatric Surgery Malformations in children classroom and extracurricular job VI course for students higher educational institutions of III-IV accreditation
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MINISTRY OF HEALTH OF UKRAINE


Pediatric Surgery
Malformations in children
classroom and extracurricular job
VI course for students
higher educational institutions of III-IV accreditation




Approved at the meeting of the department
Protocol № 1 dated 28.08.2012


Vinnitsa 2012

CONTENTS

  1. Malformations in children, diagnosis, treatment tactics and providing emergency medical care. ............................................................................ 4

  2. Congenital cysts pulmonary hypoplasia pulmonary Partial congenital emphysema .................................................................................................. 27

  3. Esophageal atresia, diaphragmatic hernia ................................................... 46

  4. Malformations, accompanied by intestinal obstruction……………………68

  5. Malformations of the colon. Hirschsprung's disease. Anorectal

  6. malformations. ............................................................................................. 94

  7. Malformations anterior abdominal wall, cryptorchidism. ......................... 125

  8. Malformations of the urinary and reproductive systems. .......................... 143

  9. 8. Malformations of the musculoskeletal system. ..................................... 171

  10. Extracurricular independent study students.
    1. Rare defects in children. ........................................................................ 213
    2. Intrauterine surgery. .............................................................................. 228
    3. Endoscopic methods of operations. ....................................................... 241
    4. Paranteralne and enteral feeding children. ............................................ 259
    5. Emergency aid for respiratory failure. .................................................. 276
    6. Emergency in cardiovascular failure. .................................................... 289
    7. Emergency renal failure. ....................................................................... 305
    8. Emergency swelling of the brain. .......................................................... 315
    9. Differential diagnosis of hydronephrosis. ............................................. 327
    10. Emergency in hepatic failure. .............................................................. 338



Defects children, diagnosis, treatment tactics and

^ URGENT MEDICAL AID.


1. Background.

In recent years, marked increase in birth defects, especially heavy ones. The frequency of congenital malformations is 0,1-1,9 New-born in 1000. Clinical observations have proven practical value syndromic approach in the child's surgeon. It makes it possible to accurately diagnose related disease in a child with multiple birth defects, can predict specific to each syndrome complications during surgery, to more accurately assess the possibility of surgical and conservative treatment, give an accurate genetic prediction in the family.


2. Specific objectives of employment:
1. Analyze the etiologic and pathogenetic factors of the most common birth defects in children.
2. Read on the basis of clinical, additional methods of examination dyzruptsiyu, deformation dysplasia.
3. Identify the need for evidence of abortion in malformation.
4. Substantiate the indications for elective delivery by cesarean section at malformation.
5. Interpret the indications for immediate transfer the newborn to the surgical department.
6. Substantiate contraindications to surgery in malformations.

3. Basic knowledge, skills necessary for studying the topic
(Interdisciplinary integration).
Number p / p
The names of previous subjects received skills
1. Anatomy explore facets of the child at different ages.
2.

Know Histology Histology of various tissues and organs in children. Be able to identify characteristics of histological structure at malformations in children.
3. Physiology Describe the physiology of the child. Identify the features of the physiology of a child this age.
4. Pathological
Describe the physiology of pathological changes in the defects. Identify the main points of etiology, pathogenesis defects.
5. Propadeutic pediatrics Possess method for screening children with disabilities. Writing assessment and demonstrate knowledge of clinical and laboratory studies, the main symptoms of defects.
6.
Radiology, ultrasound, CT, MRI Able to interpret data radiological studies. Evaluate the results obtained after the beam diagnostic methods, to identify the main radiological symptoms. Rate data ultrasound, CT, MRI studies depending on the nature of the disease and the age of the child.
7. Medical Genetics Demonstrate knowledge of medical genetics for the diagnosis of malformations, syndrome. Syndromic approach in the diagnosis of defects in pediatric surgery.

4. Tasks for independent work in preparation for employment.
4.1. List of key terms that students must master in preparation for employment.
Term Definition
Dysmorfolohiya


Much of the diseases of childhood are congenital, ie diseases caused by impaired development of the embryo or fetus. Violation of morphology, ie structure cell shape, tissue organelles.
Congenital malformation of the anatomical organ defect resulting primary genetically determined disorders of embryonic differentiation
Dyzruptsiya anatomical defects in the body due to a secondary violation of embryonic differentiation in normal genotype
Deformation Abnormal shape or abnormal position of the body, caused by a mechanical cause in utero without violating embryonic differentiation
Dysplasia Morphology tissue defect resulting from primary genetically determined disorders of tissue differentiation
Syndrome symptom, ie the simultaneous presence of two patient symptoms and more. If these symptoms pathogenetic association of kinship, but may have a different reason, it is pathogenic syndromes.
Small malformation A rare variant of body or congenital anomaly that has no medical value, do not require treatment.

4.2. Theoretical questions to studies.
1. Identify the etiologic and pathogenetic factors of the most common birth defects in children.
2. Birth defects: congenital malformations, dyzruptsiyi, deformation dysplasia.
3. Defining defects.
4. Definition dyzruptsiyi.
5. Vyznachennyay dysplasia.
6. Dysmorfolohiya as science. Values ​​for pediatric surgery.
7. Definition syndromolohiyi - Section of Clinical Medicine. Syndromolohiya various malformations in children.
8. Syndromes: VATER association syndrome Opitz syndrome, Edward's syndrome, Holdenhara syndrome, CHARGE, TAR syndrome, Noonan syndrome, syndrome Ehlers - Danlosa syndrome, Beckwith-Videmanna.
9. Methods for diagnosing defects.
10. Indications to discuss abortion with malformations and pathology that requires abortion.
11. Pathology at which delivery is recommended by cesarean section.
12. Malformations in which shows the immediate transfer of the baby to the surgical department.
13. Contraindications to surgical intervention.

4.3. Practical tasks performed in class.
1. Collect life history and disease in children with developmental disabilities.
2. Conduct review of patients with disabilities.
3. Describe the objective status and determine the main clinical and radiological symptoms in children with developmental disabilities.
4. Methods of examination of the child and the definition of small defects.
5. Settle and make a plan of examination and treatment of children with developmental disabilities.
6. Analyze ultrasound in malformations in children.
7. Identify indications and contraindications for conservative and surgical treatments for children with disabilities.
8. Features of children in the postoperative period.
9. Determine the rehabilitation of children with disabilities.

Contents subject.
Based on the current understanding of the etiology and pathogenesis of congenital malformations in pediatric surgery clinic received much attention dysmorfolohiyi and syndromolohiyi, features syndromal diagnosis of various forms of surgical diseases.
Clinical observations have proven practical value syndromic approach in the child's surgeon. It makes it possible to accurately diagnose related disease in a child with multiple birth defects, can predict specific to each syndrome complications during surgery, to more accurately assess the possibility of surgical and conservative treatment, give an accurate genetic prediction in the family.
Much of the diseases of childhood are congenital, ie diseases caused by impaired development of the embryo or fetus. It always disturbed morphology, ie structure, shape of cells, tissues organelles. This area of ​​medicine is defined as dysmorfolohiya. Changes may occur in only one tissue in one body - these cases are treated as isolated birth defects. The reason for these problems is the interaction of genetic and external factors medium that allowed mark them as multifactorial disease.
According to the international classification of all birth defects are divided into 4 groups:
- Congenital malformations,
- Dyzruptsiyi,
- Deformation
- Dysplasia.
Malformations - persistent morphological changes in organ system or organism, beyond variations in their structure and occur in utero as a result of violations of the embryo or (much less) after birth as a result of the formation of further violations.
The frequency of malformations, according to various sources, ranging from 2.7% to 16.3%, depending mainly on the completeness of records and old subjects. In the population frequency of malformations is relatively stable, but in the perinatal and early childhood mortality, their share from year to year, which is associated mainly with a decrease in mortality from fetal asphyxia, birth injury and infection.
Dyzruptsiya - anatomical defect in the body due to a secondary violation of embryonic differentiation in normal genotype (teratogenic defects caused by external to the embryo influences - intrauterine infections, radiation, chemicals and medicines, diseases of mother)
Warp - abnormal shape or abnormal position of the body, caused by a mechanical cause in utero without violating embryonic differentiation (congenital clubfoot, torticollis, congenital funnel chest and other)
Dysplasia - morphological defect tissue as a result of primary genetically determined disorders of differentiation in this tissue (hemangioma, pigmented nevi, neoplasia, etc.).
Aplasia (agenesis) - congenital absence of the body.
Congenital hypoplasia (malnutrition) - underdevelopment of the body which is its lack of weight or decrease in size, which exceeds the deviation from the average for this age.
Congenital hyperplasia (hypertrophy) - increase in body weight or size by increasing the number of volume cells.
Makrosomiya (gigantism) - increase in body length.
Heterotopiya (dystopia) - the presence of cells or tissues of the body to another, or in areas of the same body, where they should not be the norm. Dystopia tissues often called horystiyeyu and dystopia of tumor growth - hamartiyeyu.
Heteroplaziya - impaired differentiation of cells within the same tissue (eg, the presence of squamous cells in the Meckel diverticulum).
Ectopia - the location of the body in an unusual place.
Atresia - lack of natural channel or hole.
Persystyruvannya - saving embryonic structures, normally disappearing to a certain period of development (for example, the presence of an oval window in the atrial septum in the child reached 1 year).
Dizrafiya (arafa) - cleft embryonic cracks (cleft upper lip, upper jaw and palate, kraniorahishyzis - not closing the skull and spine, usually accompanied by the development of cranial and spinal hernias).
Congenital anomalies (small defects) often called defects are not accompanied by impaired body functions, such as deformation ears, do not distort the patient and do not affect the function of the organ of hearing.
Minor abnormalities that occur in certain areas:
Chairman: abnormal hair growth picture, flattened occiput, "hillocks" REDD skull
Plot the mouth and oral cavity: mikroheniya, splitting tongue aberrant frenulum eve mouth teeth enamel hypoplasia, mikrodentiya abnormally grows teeth.
Orbital plot: эpikantni folds back эpikant, Mongoloid eye shape, antymonholoyidnyy eyed, short eye slits, dystopiya outer corners of the eye, hipotelorizm moderate ptosis light heterohromiya raduzhok, mikrokornea.
Pinna: a primitive form darvynov ear, abnormal shape curl: asymmetric, rotated, reduced, protruding, no tragus, lobe splitting, lack lobes, auricular fossa, auricular performances.
Neck: webbed neck, neck fistulas.
Brushes: rudimentary polydactyly, single fold bending palm, abnormal dermatoglyphics, rudimentary polydactyly, klynodaktyliya little finger, shortening 5.4 fingers.
Feet: webbing of fingers II-III feet, sandalopodibni cracks, nail thickening, short finger.
Leather covers: hemangiomas, skin hyperpigmentation, nevi, skin depigmentation.
Minor abnormalities in infants may be the only or isolated basis - with a frequency 14%, or multiple (two or more small abnormalities in children) - at up to 11%.
The newborn with the presence of three or more small anomalies have 90% chance of birth defect - need search disabilities.
A child with three or more small abnormalities of some syndrome can be diagnosed with probability 40%, therefore requires timely diagnosis of defects.
Depending on the etiology of all defects are divided into those arising from:
- Gene mutations (monomutantni malformations);
- Chromosomal and genomic mutations (chromosomal syndromes);
- The combined effects of genetic mutations and environmental factors in relation to the embryo (multifactorial malformations);
- Teratogenic factors (group blastopatiy, embriopaty and fetopatiyi).
Comprehensive clinical, morphological, genetic studies have shown that about 20% of all defects are monomutantni form 9-12% - chromosomal syndromes, and 65% - multifactorial malformations. Thus, the vast majority of defects caused by (or related to) the changes of hereditary material, and only 2-5% induktovani directly teratogenic factors.
Underlying monomutantnoyi malformation is a single gene mutation that occurred in the germ cells of parents or more distant relatives of the patient. Transfer monomutantnyh defects from parents to children is determined by the laws of heredity. Depending on the type of inheritance of such defects can be dominant (eg, some forms of polydactyly, polycystic kidney disease, Marfan syndrome) and recessive (eg, infantile polycystic kidney disease, Meckel syndrome).
When dominant inherited malformation in one of the parents is usually a similar anomaly. When retsesyvnymu inheritance parents are healthy, but are carriers of the modified gene.
Chromosomal syndromes (chromosomal disease) - a group of defects induced by numerical or structural changes of chromosomes. For violations of the number of chromosomes are trisomy when there is extra chromosome and monosomy when one chromosome is missing. People only found monosomy X; absence of any autosomes incompatible with life. The main structural changes of chromosomes, leading to defects are partial trisomy and partial monosomy (deletion).
Chromosomal syndromes occur multiple, less systemic defects (some cases of mono-or trisomy X in women and in men disomiyi X). A child with any chromosomal syndrome is usually observed a large number of defects. Their combination creates a very specific chromosomal syndromes for most pathological morphotype. Well-known syndromes caused by mutations in virtually any chromosome. Of these, the most common syndrome, Klinefelter syndrome, Shereshevsky - Turner, Patau syndrome, Edwards syndrome partial monosomiy to 4, 5 and 18-chromosome.
For the occurrence of defects multifactorial group needed a genetic predisposition, which is caused by a group of abnormal genes that have reached a certain (nadporohovoyi) concentrations, and exposure to adverse environmental factors. This group includes the majority of congenital heart defects, cleft lip and palate, anencephaly, congenital pyloric stenosis, megacolon, clubfoot, congenital dislocation of hip dysplasia, kidney and many others.
The cause malformations in humans are just some of the large list of teratogenic factors known in experimental teratology. These, in particular, include some viruses (measles, lymphocytic choriomeningitis), pathogens toxoplasmosis, listeriosis, the effect of ionizing radiation in the total dose to the fetus than 0.05 Gy in the period of organogenesis, certain medications (thalidomide, warfarin, cytostatics, progestin, etisteron , methyltestosterone), ethyl alcohol, diabetes.
Pathogenesis of malformations (teratohenez) studied enough, found that the formation of defects is due to disruption of breeding, migration and differentiation of cells, loss of individual cell mass, slowing their dispersal, violation of adhesion tissues.

Stopping or slowing cell proliferation leads to aplasia or hypoplasia of the body, as well as violations of the merger. As a result of violation of cell migration may develop heterotopiyi, agenesia and a number of complex defects. For example, severe symmetric facial cleft formed by a breach of neuroectodermal crest cell migration in maksillyarni processes.
Violation of cell differentiation is possible in any period of embryogenesis, causes agenesia of their morphological and functional immaturity and persistence of embryonic structures.
Excessive cell death that die during normal embryogenesis (for example, which occurs when resorption mizhpaltsovyh membranes) underlies ektrodaktilii - aplasia middle fingers or feet (kleshnopodibna hand and foot). Delay physiological cellular debris (eg, recanalization of the intestinal tube and opening orifices) may lead to atresia, stenosis.
The basis of the formation of some defects are circulatory disorders caused by thrombosis, compression, hemorrhage. Teratogenic effect of infections often associated with cytolytic effect.
Formation of most defects occurs in the first 8-10 weeks of pregnancy. There are two critical periods during which the embryo is most sensitive to the action of damaging factors. The first one is at the end of the 1st - early 2nd week of pregnancy. Disturbing influence in this period mainly leads to the death of the embryo. A similar effect in the second critical period (3-6th week) more indyktuye bug development.
In order to establish the possible etiology of malformations appropriate time of the alleged factor did not correlate with the critical, and teratohenetychnym terminatsionnym period (TTP). Malformations separated by etiology, time of occurrence and object damage sequence formation.
There are primary defects (due to the direct influence of harmful factors) and secondary, primary complication.
As the prevalence of isolated isolated (single, local) malformations localized in one organ, system defects (within a single system, such hondrodysplaziya), multiple defects that develop in the bodies of two or more systems (for example, a combination of cleft lip with polydactyly ).
Isolated and system defects are classified by anatomic attribute to malformations of the central nervous system, heart and blood vessels, respiratory system and others.
Multiple malformations are divided into syndromes and unclassified systems. During syndromes realize stable combinations of primary defects of which indyktuyetsya common etiological factor (mutation or teratogenic effects). In cases where complex detected in the patient malformation does not fit in any of known syndromes, use the term "unclassified complex congenital" or "multiple defects, unspecified".
Isolated congenital malformations do not cause difficulties in diagnosis and surgical treatment because modern pediatric surgery has experience in the treatment of many pathological states of this type. Around the mid 50-ies of the needs of clinical practice primarily promoted the expansion of research work to study эtiolohiyi and pathogenesis of multiple congenital malformations. It was during these years in clinical medicine began to form a large part, later named syndromolohiyeyu
With the development of diagnostic methods in modern medicine and genetics have described many new syndromal forms of human pathology. Well-known catalog Mack K'yusyka in electronic form on the Internet has already more than 5000 normal and pathological features of human that are inherited according to Mendel's laws, and the number of these features increases monthly (OMIM (TM), Online Mendelian Inheritance in Man, 1996) .
Famous London database syndromolohiyi currently more than 2500 syndromes, and 10-15 year describes the "new" nosological forms of syndromic human pathology and this process is the definition of "new" syndromes endless. By the early 80-ies of information in this area has become so large and varied that needed unification modern terminology refers to the definition of syndromes and similar forms of multiple lesions of the human body.
In 1982 appears the first monograph M. Sohen (Sohen M.M., Jr The Child with Multiple Birth Defects.-New York, 1982), which developed the methodological foundations syndromolohiyi as practical and scientific medicine. The difference syndromolohiyi, that discipline for the diagnosis and study of isolated human pathology (bug one organ or system), illustrates the fact that in classical medicine during the XX century, described only a few new diseases (radiation sickness, a disease Legionnaires, AIDS, Lyme disease) while in syndromolohiyi number nosological forms much more. For some forms of syndromal diseases, modern molecular genetics allowed to localize genes and determining their research products of gene transcription, which often presents membrane receptors or Tissue foktoramy growth. Thus, with Hirschsprung's disease has two different gene mutations that allowed to distinguish two types of genetic congenital disorders.
Approximately 1% of newborns are nonrandom combination of several small anomalies and birth defects, of which 40% can diagnose a particular syndrome, and in 60% of cases require the provision of so-called new syndromes. This shows the difficulty of diagnosis of syndromes, whose number now exceeds 1500, and annually in the periodic literature describes at least 10-15 new nosological forms. The frequency of most syndromic forms of pathology is quite low (I case of 10 000-100 000 births), but in total incidence proportion syndromal forms much more. For example, among children with esophageal atresia frequency syndromal forms of pathology reaches 55% among children with anorectal defects and 60% of children with congenital deformities of the chest - 30%. Some syndromes occur most often that requires the ability to diagnose not only geneticists but also a pediatrician and pediatric surgeon. For example, among children with cryptorchidism and congenital heart syndrome occurs Nunen whose frequency in the general population is 1 in 2,000 children, among infants with fetal and umbilical hernia is a syndrome Beckwith-Videmanna with a frequency of at least 1 case in 12,000 births.
Some syndromes are well established in surgical practice as extremely important, can cause serious complications. For example, the syndrome Ehlers-Danlosa described no less than 500 publications and several books. It has an important role in general surgery, pediatric surgery and vascular surgery. Suspected syndromal pathology is grounded in a child with bilateral defect, such as in cases of bilateral congenital hand or foot (polydactyly, congenital talipomanus are presented). Some congenital malformations or small abnormalities with high probability indicate syndromal pathology or a birth defect. Yes, preaksialna polydactyly (doubling the thumb hand or foot) with a high degree of probability suggests syndromal pathology, while postaksialna polydactyly (doubling little finger hand or foot) is usually an isolated congenital defect.
The term "syndrome" of Greek origin and means "running alongside." This term refers to the syndrome, ie, the simultaneous presence of two patient symptoms and more. If these symptoms pathogenetic association of kinship, but may have a different reason, it is pathogenic syndromes. A good example of this syndrome may be hepatosplenomegaly, the cause of which may be congenital malformation, tumor, metabolic disorders. So syndrome - is etiologically defined disease with multiple effects.
At a delay of psychomotor development and the presence of three small anomalies in 20% of cases it can lead to mental retardation, is of great importance in the correct prediction of the child.
Identification of a newborn and three more small anomalies requires careful ultrasound examination of the heart, brain, kidneys and abdominal organs to early diagnosis of birth defects that have no clinical manifestations in this age. In addition, should consult a physician-geneticist for timely diagnosis of certain syndromes with further medical observation
In practice syndromic forms of pathology are cases where a child than any other birth defects, there is an unusual phenotype, ie the presence of three or more small anomalies.
According to the practical dysmorfolohiyi, the diagnosis of a child's birth defects before a surgeon will be the following question:
- Defect associated with other birth defects that are not detected clinically;
- How often congenital malformation is a symptom of syndromal forms of pathology;
- Syndromes are more common at this congenital wadi.
Answers to these questions is the first step in diagnostic practice teamwork surgeon and syndromoloha. The ultimate goal of this stage is the diagnosis of additional congenital malformations defined syndrome. When diagnosing syndromal forms of pathology becomes clear further medical tactics against surgical or conservative treatment and medical genetic prediction in the family of a sick child. Information about the outlook for the life and health with a particular syndrome is extremely important and is the main goal of medical work.
The first diagnostic step can be illustrated by one of the most common birth defects - esophageal atresia. The most frequent associations associated with esophageal atresia are presented in Table. 1.
TABLE 1.
Associated with congenital esophageal atresia.
Associated congenital defects rate in%
Congenital heart 29-37
Anorectal malformations 11-17
Congenital gastric intestinal tact 5-13
Congenital urinary-genital system 11-28
Congenital musculoskeletal 10-49

Approximately 55% of all cases of esophageal atresia are associated congenital malformations, most commonly, congenital heart disease and musculoskeletal (Stevenson RE, Hall JG, 1996). Syndromic forms of oesophageal atresia occur with a frequency of about 20% and represented 24 mya forms nosological diagnosis. The most common syndromic forms of atresia is VATER (Vertebral, Anorectal, Tracheo Esophageal, Rena1) association syndrome Opitz syndrome and trisomy on chromosome 18 (Table 2).
Table 2.
Syndromolohiya various forms of esophageal atresia.
The syndrome's manifestations Etiology
VATER association of vertebral, anorectal, tracheo-ezofahialni, renal. Multifactor imitation
Opitz syndrome Hipertelorizm, hypospadias, disfahiya, heart defects, cleft lip and palate autosomal - dominant inheritance
Edwards Syndrome The speaker neck, small facial features, short sternum, arch your fingers, psychomotor retardation trisomy of 18 chromosome
Down syndrome muscular hypotonia, macroglossia, lunopodibne face Mongoloid eye shape, hypoplasia V finger trisomy of 20 chromosome
Syndrome Holdenhara Asymmetry / hypoplasia of the face, hearing loss,
poluhrebtsi spine makrostomiya, epibulbarnyy dermoyid, kolobomby eyelids, heart defects, hypoplastic lungs, kidney defects, kidney abnormalities. Unknown
Kolobomy CHARGE (Coloboma), heart disease (Heartrefects), atresia choanae (Atresia choane), growth retardation (Retarded groroth), hypoplastic genitalia (Genital hypoplasia), anomalies of ears (Ear anomalies) Multifactor imitation

Most chromosomal syndromes with autosomal disorders characterized by congenital brain that makes a welcome prognosis in these diseases unfavorable, and the children who survived, there is mental retardation. However, in children with VATER association and Opitz syndrome often normal intelligence, and a welcome prediction depends on the weight and multiple birth defects. It is important to note that these forms of pathology diagnosis based only on clinical presentation and features of the phenotype of a sick child. Yes, Opitz syndrome should be suspected in the presence of only two traits in boys - pronounced hypertelorism (widely placed eyes) and hypospadias. Only these features allow purposefully seek esophageal pathology, especially when the clinical picture of symptoms disfahiyi or aspiration pneumonia.
Various birth defects characterized by different frequency sydromalnыh forms. The most common syndromic forms of such defects as Gastroschisis, эkstrofiya bladder эpispadiya. On the other hand, when the frequency of defects anorektalnыh syndromalnыh form reaches 65%.
Most often syndromal forms diagnosed in children with orthopedic disorders - 58% of anorektalnыmy anomalies - 62%, and the pathology of the esophagus, the value is - 34%.
The practical value of syndromic approach in the surgical clinic is as follows: it allows to accurately diagnose related disease in a child with multiple defects, allows to predict specific to each syndrome complications during surgical treatment, to more accurately assess the possibility of surgical or conservative treatment of surgical diseases (timing and volume surgery, long-term outcomes), to give an accurate genetic prediction in the family. However, this does not exhaust the possibilities syndromic approach. The purpose of this approach is to allocate patients, similar in phenotype and complications that will continue to predict these complications and therefore find ways of prevention and optimal treatment
Noonan syndrome (named after the author who described the disease in 1963) - an autosomal dominant hereditary disease that has been observed in 1 in 1000 - 2500 people. Diagnosis is based on a combination of low growth, broad or webbed neck, chest deformity, congenital heart defects and unusual facial phenotype (frontal grow, hipertelorizm, rotated ears with hanging scrolls). Children almost always are the first patients with surgeons, because the newborn are vrozhdeni heart disease (valvular stenosis of the pulmonary arteries, ventricular septal defect), cryptorchidism in boys, a combined deformity of the chest.
Practical recommendations for surgeons following:
• Development of Media severe hylotoraksu / hyloperykardu when damaged thoracic lymph duct,
• Aplasia hypoplasia of lymph vessels found in 20% of newborns as heniralizovannoho or peripheral lymphostasis,
• Possible malignant hyperthermia during anesthesia
• high possibility of bleeding in the postoperative period as a result of deficiency of factor IX (Villebrandta disease or dysfunction of platelets, which are found in 20% of newborns)
When conducting CARDIAC interventions and damaged thoracic lymphatic duct develops hyloperykard or hylotoraks; possible malignant hyperthermia during anesthesia. This probability is low -1-2%, but given the seriousness of this complication, it is recommended to observe caution during anesthesia and using the drug dartrolena.
Noonan syndrome surgeon should conduct a study of blood coagulation, even when planning small-scale surgery.
TAR Syndrome (first letters indicate the clinical manifestations of the disease - thrombocytopenia, aplasia, radial). It is an autosomal recessive disease characterized by a combination of thrombocytopenia with bilateral absence of the radius while maintaining the thumb brush. Diagnosis of the disease is placed after birth, but clinical presentation can be quite varied with ulnar hypoplasia and / humerus, the presence of congenital heart disease.
In 90% of cases are diagnosed thrombocytopenia in the first 4 months of life, in 60-70% of cases are reported Leukemoid reaction with hepatosplenomegaly in 50% of cases - eosinophilia, sometimes there is hemolysis. All these hematologic manifestations provoked by many factors, the most important of which is cow's milk protein, surgical stress and infection. Especially dangerous these factors in children up to 3 years of life.
Surgical intervention in children with TAR syndrome to five-year age performed only for health indicators. Compulsory exclusion of children with dietary protein of cow's milk, caution and optimal timing of surgical correction of radial talipomanus and congenital heart disease can save the lives of these patients. When non-compliance of these recommendations mortality is about 60%, mostly from bleeding in the brain or lungs. When conducting surgeries for health indicators should prepare in advance a lot of fresh platelet transfusion, which should be taken only from one donor, because immune conflict - an additional factor for the occurrence of thrombocytopenia and Leukemoid reactions.
Ehlers - Danlosa.

• expressed the fragility of the vascular wall (the possibility of spontaneous rupture of large arteries, failure incision);
• The possibility of spontaneous rupture of hollow organs (bowel, bladder), caution during laparoscopy;
• caution during angiographic studies (rupture of the arteries);
• the probability of spontaneous pneumothorax;
• delayed postoperative scar formation (terms of removal of sutures increased by 1.5-2 times).
Syndrome Beckwith-Videmanna. Syndrome Beckwith-Videmanna - dominant syndrome. Minimal diagnostic criteria: a large mass at birth or postnatal advance physical development, defects anterior abdominal wall closure (embryonic hernia, umbilical hernia, diastase recti) vistseromehaliya (nefromehaliya, hepatomegaly, splenomegaly), macroglossia, unusual appearance of the child (hemangioma forehead, "notch" on the pinna). Diagnosis of the disease should be borne in mind in children with fetal or umbilical hernia, macroglossia and embryonic tumors (neuroblastoma, Wilms' tumor).
Possible complications in patients with the syndrome Beckwith-Videmanna:
• likelihood of neonatal hypoglycemia (60%) with the development of the court in the postoperative period;
• a large percentage (10-40%) эmbrionalnyh tumors, especially when nefromehaliyi or somatic asymmetry of the trunk, which requires monitoring and an ultrasound of the kidneys three times a year to 3 years of age and in older children 2 times a year to 14 years (timely diagnosis of Wilms tumor).
Marfan syndrome. Dominant syndrome. Minimal diagnostic criteria - asthenic physique dolihostenomiyeliya (long limbs), arachnodactyly, lens subluxation or weakness ciliary belt (tsinnovoyi ties) and the absence homotsistina in urine.
The diagnosis of Marfan syndrome should be borne in mind in children with congenital deformities of the chest, abnormalities of the spine (scoliosis, kyphosis), abnormal mobility of joints and various hernias (inguinal, umbilical, diaphragm). Very often in this disease characteristic in common connective tissue disease - mitral valve prolapse.
Doing and complications in patients with Marfan's syndrome:
• complications of intubation via mobility temporomandibular nizhno-jaw joints and joints of the cervical spine;
• risk of sudden increase or decrease in blood pressure during surgery;
• careful use of muscle relaxants in myopathic manifestations (possible paradoxical or prolonged effect);
• the possibility of lethal ventricular arrhythmias and bacterial endocarditis in the postoperative period with mitral valve prolapse;
• expanding aortic aneurysm formation and aortic dissection with the ability to break;
• increased risk of spontaneous pneumothorax (4.4%);
• increased incidence of pneumonia and chronic emfizemopodibnyh changes;
• reduced lung capacity, which increases the risk of anesthetic complications.
Approximately 1% of newborns are nonrandom combination of several small anomalies and birth defects, of which 40% can diagnose a particular syndrome, and in 60% of cases require the provision of so-called new
Important role in solving the problems of diagnosing congenital anomalies plays antenatal survey, conducted from 14-18 weeks of pregnancy. It allows to identify the main types of defects long before birth. In the case of antenatal diagnosis of defects prospective parents should be detailed, accessible language informed about the disease of a child and the possibility of correction of this anomaly. Based on this information, they have the right to decide the fate of her unborn baby.

Symptoms ultrasound obstezhanni described in the fetus.
● Polihidroamnion (gastro-intestinal obstruction, abdominal wall defects, anencephaly, diaphragm rupture, inability to swallow the fruit and concentrate urine).
● Distotsiya (bowel obstruction, abdominal wall defects, abnormalities of the urinary system).
● Mekoniyevyy peritonitis (intestinal obstruction, intestinal perforation).
● fetal ascites (anomalies of urinary tract, peritonitis, heart disease).
● Olihohidroamnion (renal agenesis).
● Expanding areas of the intestinal tube.
● Lack of visualization of the stomach and intestine sections with repeated surveys.
Pathology, where possible intrauterine surgical correction:
● diaphragm hernia small sizes
● Hydrocephalus
● hygroma neck
● hydrothorax
● Omfalotselye
● hydronephrosis
● megaloureter
● urethral atresia
● Stenosis of the aorta and pulmonary artery
Pathology, requiring Cesarean delivery: a giant teratoma, omfalotselye, Gastroschisis, chylangioma neck large sizes.
Chance and compulsory antenatal diagnosis of defects, because about 45% of patients with combined defects, which often are leading in thanatogenesis.

Pathology, requiring Cesarean delivery: a giant teratoma, omfalotselye, Gastroschisis, chylangioma neck large sizes.
Chance and compulsory antenatal diagnosis of defects, because about 45% of patients with combined defects, which often are leading in thanatogenesis.

Possible antenatal diagnosis hastroshyzisa. This issue is rarely combined with other disabilities.

Chance and compulsory antenatal diagnosis of congenital, because about 50% of patients with Down syndrome, for example combined with high intestinal obstruction (WCS). Reasons WCS: duodenal atresia, annular pancreas, duodenum membrane (often combined with malrotatsiyeyu). Rare forms of disability - is preduodenalna Gate vein, aberrant vessels liver doubling duodenum.

Pathology that gives rise to discussion on abortion: achondroplasia, valve posterior urethra with bilateral megaloureter, hydronephrosis, renal cystic dysplasia, severe disability, limb anomalies, any CNS anomalies to 20-22 weeks (excluding vascular plexus cysts) multiple malformations.
Pathology that requires abortion: anencephaly, holoprozentsefaliya, ekzentsefaliya, hydrocephalus caused Arnold-Chiari syndrome, large head and spinal herniation, intracranial tumors porentsefaliya more than 1cm, massive Cheka, cleavage face, agenesis of the eyeballs, gross heart defects: ectopia of the heart, double discharge of vessels, SLA, expressed ventricular hypoplasia, common ventricle, renal agenesis, polycystic children agenesis type bile ducts, adherent twins.
Pathology that requires urgent after birth transfer to the surgical department: Gastroschisis, omfalotselye (embryonic hernia with a narrow base), esophageal atresia, atresia of the small and large intestine, perforated anus diaphragm hernia, cystic lung hypoplasia with NAM expressed urethral stricture, tumor formation, leading to asfiktychnoho syndrome.
Pathology that requires hospitalization in a surgical department in the neonatal period: three-dimensional formation abdominal pulmonary sequestration, multykistoz kidney megaloureter, hydronephrosis, bladder extrophy, sacro-coccygeal teratoma areas, cysts or biliary atresia.
Contraindications to surgical intervention in children with developmental disabilities.
Absolutely contraindicated surgery to children through their existing defects are viable. Do not have to deal with a child who is in preahonalnomu and agonal state or in a state of shock, III and IV degree, but after removing it from this state in the presence of absolute indications surgery possible.
In cases where the cause of a severe condition can be cured only by surgery (bleeding, pneumothorax, etc.), the operation can begin and the final withdrawal of the patient from shock against antishock measures.
Cough and cold in children who are chronic in nature and not accompanied by fever and lack of appetite, is not a contraindication for surgical intervention in the case when the catarrhal phenomena occur acutely and are accompanied by the reaction temperature and other signs of any disease, surgery should be postponed .
Relative contraindications believe respiratory diseases, infectious diseases, disruption of normal child development associated with malnutrition, diarrhea and other causes: exudative diathesis, pyoderma, pronounced effects of rickets, a condition after vaccination, fever of unknown etiology.
Development of anesthesiology and resuscitation increased the possibility of surgery even in very serious condition of patients. In addition, some children suffer for many months any airway disease, and prolonged delay operation is dangerous or promotes respiratory disease (eg, cleft palate). In such cases, conducting intervention as soon as there was a light period and subsided catarrhal.
Operate children only with the consent of their parents or persons in loco parentis. Written consent of the record in history. In a pinch you can get verbal consent, data of witnesses. If there are absolute indications for surgery and the parents can not report it and their consent is not obtained, the question of the operation decided concilium of 2 - 3 doctors, which communicate to the chief physician.

Materials for self-
Situational task.
Task 1. According to the international classification of all birth defects are divided into 4 groups.
1. Which group of congenital allocated according to the international classification?
2. Define the concept of a congenital defect.
3. Define the concept dyzruptsiya.
4. Define the concept of deformation.
5. Define the concept of dysplasia.

Task 2. Small malformation - a rare variant of body or congenital anomaly that has no medical value, do not require treatment. For children's surgeon plays an important role determining defects or abnormalities to refine treatment strategy and the development of rehabilitation
1. Define the concept of small defects.
2. What are the main group of small anomalies in children.
3. Explain the definition of congenital defects.
4. Explain the definition of the syndrome.
5. Rehabilitation of young children with disabilities.

Problem 3. The child found syndrome, which is based on a combination of low growth, broad and webbed neck, chest deformity, congenital heart defects and unusual facial phenotype: frontal grow, hipertelorizm, rotated ears with hanging curls.
1. Definition syndrome.
2. Malformations, which are determined in children with this syndrome.
3. Practical recommendations for surgeons.
4. Rehabilitation of children with this syndrome.

Problem 4.B boy asthenic physique dolihostenomieliya (long limbs), arachnodactyly, lens subluxation and absence homotsistina in urine. During the inspection defined funnel chest, kyphoscoliosis, abnormal joint mobility.
1. Identify syndrome.
2. What deformation characteristic of this syndrome?
3. Features of children with this syndrome.
4. What are the complications seen in children with this syndrome?
5. Rehabilitation of children with this syndrome.

Problem 5. In newborns with birth defects highlighted various groups that differ in their approaches to tactics and treatment.
1. State the main evidence for malformations that give grounds for debate on abortion.
2. When can I malformation indicated abortion?
3. When can newborn defects should immediately transfer to the surgical department?
4. When can newborn defects should be translated to the surgical department during the infant?

Problem 6. The child hereditary autosomal dominant disorder, based on a combination of low growth, webbed neck, chest deformity, congenital heart defects and unusual facial phenotype - the frontal grow, hipertelorizm, rotated ears with hanging scrolls, cryptorchidism. What kind of syndrome should think first of all.
1. Identify the main manifestations of the syndrome.
2. Etiology and pathogenesis of the disease.
3. Treatment of children with the syndrome.
4. What are the complications that can occur in a child during surgery.
5. Rehabilitation of children with this syndrome.

Problem 7. In pregnant for 24 weeks during the examination found the fetus fetal hernia larger other malformations in children were found.
1. Etiology and pathogenesis of the disease.
2. Principles of collecting genetic history.
3. Treatment of pregnant and receiving delivery.
4. First medical and emergency newborn with fetal hernia.
5. Medical treatment in children with congenital malformations.

Task 8 In the newborn girl found small abnormalities: flattened occiput, easy ptosis, a primitive form of ears, abnormal shape curl ears, polydactyly brush.
1. Define the concept of small abnormalities.
2. Classification of small anomalies.
3. Tactics newborn examination with small defects.
4. Clinical management and treatment of young children with disabilities.
5. Rehabilitation of children with disabilities.

Problem 9. Newborn Association defects discovered bug where the spine, anus atresia, tracheo-ezofahialnu fistula
1. Determine syndrome in which there is this association.
2. The main manifestations of this syndrome.
3. Diagnosis of the syndrome.
4. First aid and medical tactics syndrome.
5. Rehabilitation of children.

Problem 10. Newborn to 5 days at clinical examination revealed thrombocytopenia. In addition, the child radial aplasia with preserved first finger and heart disease.
1. Define the concept of syndrome
2. Diagnostic tactics in children with this syndrome.
3. First aid and medical tactics in children with this syndrome
4. Complications that can occur in children with this syndrome.

Tests
1. Pathology that gives rise to discussion on abortion to data by ultrasonography in 18-20 weeks of pregnancy is:
A. Congenital dislocation of the hip
B. Rough incapacitating limb anomalies
S. webbing
D. Polydactylism
E. hypospadias

2. Pathology that requires urgent after birth transfer to the surgical department at wadi development, which was diagnosed before birth by ultrasound.
A. Gastroschisis
B. Asymmetry face
S. spinal deformity
D. Polydactylism
E. Absence of one kidney

3. Absolutely contraindicated surgery to children through their existing defects are not viable in such cases.
A. Asphyxia
B. Newborn in a coma II
C. Wasting
D. Newborn in a coma III - IV degree
E. Newborn in a coma and degree

4. Newborn defined defect of limbs, small heart anomaly face. Neonatologists identified this condition as a syndrome. What is the basic definition of the syndrome.
A. Presence of Defects
B. Small malformation
C. Maldevelopment
D. Deformation
E. Having a child of two or more symptoms

5. Down Syndrome - a syndrome in the newborn which determined the following symptoms:
A. Muscle hypertonicity, mikrohlosiya, normal face, Mongoloid eye shape, no V fingers
B. Muscular hypotonia, macroglossia, lunopodibne face Mongoloid eye shape, hypoplasia V finger
C. Muscular hypotonia, normal facial complexion, normal eyed, hypoplasia and finger
D. Muscle tone is normal, mikrohlosiya, deformation of the face, normal-eyed
E. Muscle hypertonicity, webbing, deformity face, ptosis of both age macroglossia

6. The child noticed a large mass at birth and postnatal physical development ahead, defects closing the anterior abdominal wall - umbilical hernia, diastase recti, nefromehaliya, hepatomegaly, splenomegaly, macroglossia, hemangioma forehead, "notch" in the ear. What syndrome in a child?
A. Marfan Syndrome
B. Syndrome Beckwith-Videmanna
C. Down Syndrome
D. Syndrome Ehlers-Danlosa
E. TAR Syndrome

7. The child hereditary autosomal dominant disorder, based on a combination of low growth, webbed neck, chest deformity, congenital heart defects and unusual facial phenotype - the frontal grow, hipertelorizm, rotated ears with hanging scrolls, cryptorchidism. What kind of syndrome should think first of all.
A. Syndrome Beckwith-Videmanna
B. TAR Syndrome
C. Syndrome Ehlers-Danlosa
D. Down Syndrome
E. Noonan Syndrome

8. In the newborn there are clinical signs of the disease - thrombocytopenia, radial aplasia. Determined autosomal recessive inheritance of the disease, which is characterized by a combination of thrombocytopenia with bilateral absence of the radius while maintaining the thumb hand, the presence of congenital heart disease. What kind of syndrome in a child should think first of all.
A. Syndrome Beckwith-Videmanna
B. TAR Syndrome
C. Down Syndrome
D. Noonan Syndrome
E. Syndrome Ehlers-Danlosa
 
9. Newborn - abnormal form of the right lower extremity and facial asymmetry caused by a mechanical cause in utero. The mother diagnosed with uterine fibroids before pregnancy. This bug should be defined as manifestation:
A. Dysplasia
B. Dizruptsiyi
C. Deformation
D. Osteodysplaziyi
E. Anomalies

10. A child of three years during examination revealed hypoplasia of the left kidney, which is decreasing size, which exceeds the deviation from the average for this age. This anomaly in a child should be defined as:
A. Kidney Dysplasia
B. Aplasia kidney
C. Congenital hypoplasia
D. Nephroptosis left
E. Congenital hypertrophy

List of theoretical questions
1. Malformations in Children, etiology, pathogenesis, frequency.
2. Syndromolohiya in pediatric surgery.
3. Minor abnormalities.
4. Down syndrome, Edwards syndrome, VATER association syndrome Opitz syndrome,, CHARGE.
5. Features surgical interventions in children with syndromes and malformations.
6. Preventing defects.

Practical tasks:
1. Methods of examination of the child and the definition of small defects.
2. Analyze ultrasound in malformations in children.

Recommended Reading
Basic Books:
1. Sushko VI Surgery childhood. Kyiv. "Health", 2009, 65-70, 325 - 379.
2. Outpatient ambulatory care for children. Edited by prof. Drying VI 2004,
3. Lenyushkyn AI Guide to baby polyklynycheskoy surgery. - L.: Medicine, 1986. - 108 pp.
Further Reading:
1. Isakovi YF Hyrurhycheskye disease in children. - Moscow: Medicine, 1998.-248 p.
2. Ashkraft KU, Holder TM Children's Surgery / Trans. s English. - St. Petersburg., Hardford, 1996. - 458s.
3. Andrews NC. Disorders of Iron Metabolis. The New England Journal of Medicine, 341 (26) :1986-1995, 1999
4. Cohen MM, Jr: The Child With Multiple Birth Defects. New York: Raven Press. 1982. 189 pp.
5. Cohen MM, Jr: The Child With Multiple Birth Defects. Second edition. New York: Oxford University Press. 1997. 267 pp.
6. Merryweather-Clarke AT, Pointon JJ, Shearman JD, Robson KJ. Global prevalence of putative hemochromatosis mutations. J Med Genet, 34:275-278, 1997
7. Olynyk JL, Cullen DJ, Aquilia S, Rossi E, Summerville L, and Powell LW. A Population-Based Study of the Clinical Expression of the Hemochromatosis Gene. The New England Journal of Medicine, 341 (10) :718-724, 1999
8. Opitz JM: Terminological and epistemological considerations of human malformations. In Harris H. and Hirschhorn K. (eds): Advances in Human Genetics. New York: Plenum, 1979, pp.71-107
9. Spranger J., Benirschke K., Hall JG, et al.: Errors of morphogenesis: Concepts and terms. Recommendations of an International Working Group / / J.Pediatr. 100 (1) :160-165, 1982
10. Stevenson R.E., Hall J.G., Goodman R.M. Human Malformation and Related Anomalies.Vol. I and Vol.II. New York & Oxford: Oxford University Press, 1993, vol. I - 271 p.; Vol. II - 1162 p.
12. Delaunay NL, Solonychenko VG Adaptyvnыe fenotypы in human physiology and medicine. Success physiological sciences, 1999, t.30, № 2, p.50-62.
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