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Pediatric Eye Disease Investigator Group: Patching vs atropine to treat amblyopia in children aged 7 to 12 years, Arch Ophthalmol 126:1634­1642, 2008. An essential component of any eye examination in an infant or child, the red reflex test is an evaluation of reflected light off the ocular fundus. Abnormal color (particularly white), incomplete coloring (dark spots present), or asymmetrical coloring warrant ophthalmologic consultation because these can represent cataracts, glaucoma, retinoblastoma, strabismus, or high refractive errors. American Academy of Pediatrics, Section on Ophthalmology: Red reflex examination in neonates, infants, and children, Pediatrics 112:1401­1404, 2008. Why are early diagnosis and treatment critical for patients with congenital cataracts? Delay in treatment can lead to irreversible vision loss as a result of deprivation amblyopia. Cataracts undiagnosed for as little as 4 to 8 weeks after birth can result in permanent deficits. In general, the younger the child, the more urgent the need for evaluation if cataracts are suspected. It may be due to trauma, but it has also been associated with systemic diseases such as Marfan syndrome, homocystinuria, and congenital syphilis. Leukocoria, or white pupil, may be a result of any mass behind the pupillary space. This includes infants with cataracts, retinoblastoma, or retinopathy of prematurity who develop retinal detachment. Up to 20% of the normal population can have physiologic anisocoria (inequality of pupil size) of up to 0. Heterochromia irides, or difference in iris colors, can be a familial autosomal dominant trait. However, changes in color can occur from trauma, hemorrhage, inflammation (uveitis, iridocyclitis), malignancy (retinoblastoma, neuroblastoma), or glaucoma, or after intraocular surgery. Suspected cataracts require urgent evaluation, particularly in newborns and younger infants. Uncorrected visual acuity errors in children <8 years old can cause irreversible, lifelong problems. Pseudoesotropia, a normal variant, mimics strabismus as a result of widened epicanthal folds. Nasolacrimal duct obstruction is common in infants and resolves spontaneously in >95% of cases by 6 months of age. Color blindness typically involves the variable loss of the ability to distinguish colors, especially red, green, and blue. Defects in appreciating red or green color are transmitted in an X-linked recessive manner and affect up to 1% and 6%, respectively, of the male population. Blum, Mark Clayton, and James Coplan that were retained from the first three editions of Pediatric Secrets. Other possibilities include psychogenic and the always present idiopathic diseases (which may represent the largest category). A child with sharp, stabbing, very localized chest pain, which occurs at rest and resolves completely without associated symptoms after 1 minute, likely has what condition? Also called Texidor twinge after the original 1955 describer, this may be an underappreciated phenomenon in children with very characteristic features that often prompts extensive, and unproductive, diagnostic workups. It manifests as a sudden-onset chest pain in children, very localized (patient points to area with one or two fingers), which occurs most commonly over the left sternal border, right anterior chest, or flanks with variation of site from episode to episode. The pain occurs typically at rest without provocation, is exacerbated by deep breaths (so the patient breathes very shallowly), and usually lasts 30 seconds to 3 minutes. Unlike cardiac, pulmonary, gastrointestinal, or chest wall causes, there is a paucity of associated symptoms. Some studies show that up to 13% of normal children have some degree of posterior leaflet prolapse on echocardiography. There is a spectrum of anatomic abnormalities, the most minor of which are a variation of normal. Children with clinical features of mitral valve insufficiency constitute the pathologic category. This allows for evaluation of the child for possible accompanying cardiac abnormalities. Marfan syndrome, Ehlers-Danlos syndrome, pseudoxanthoma elasticum, osteogenesis imperfecta, and Hurler syndrome.

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Successful treatment of thrombocytopenia using gamma globulin has been described (Cyran et al 1991). Splenic rupture should be suspected if a young patient develops left upper quadrant pain in the absence of trauma. Following the nonoperative management of three cases and a review of the literature, Schuler and Filtzer (1995) questioned the assumption that surgery is the most appropriate treatment. However, since this complication can be fatal, Farley et al (1992), after reviewing nine cases out of 8116 infectious mononucleosis admissions over a 40-year period, considered emergency splenectomy to be safest. Johnsen T, Katholm M, Stangerup S-E 1984 Otolaryngological complications in infectious mononucleosis. Konarzewski W,Walker P, Donovan A 1991 Upper airway obstruction by enlarged tonsils. The diagnostic criteria for insulinomas include a fasting plasma insulin of >6 m U ml­1 and detectable levels of serum C-peptide, at the same times as symptoms of hypoglycaemia and a blood glucose concentration of <2. Closely supervised fasts of up to 24 h or beyond may be required, since factitious hypoglycaemia has been produced by concealed consumption of oral hypoglycaemics (Proye et al 1998). Medical control of insulin secretion may be required for those in whom tumours cannot be localised, or who are unfit for surgery (Gill et al 1997). Diazoxide probably counteracts hypoglycaemia by effects on beta-cell potassium channels, but may cause fluid retention. Insulinoma A rare insulin-secreting pancreatic islet cell tumour, which may be benign or malignant. Hypoglycaemia may also occur with secretion of insulin-like growth factors from tumours or other tissue situated outside the pancreas (Le Roith 1999). Patients may complain of sweating, hunger, palpitations, or exhibit various focal neurological deficits coinciding with cerebral hypoglycaemia. Symptoms are either spontaneous, or induced by an overnight fast, or a controlled insulin infusion. In a study of 25 patients, the median time of severe symptoms of cerebral hypoglycaemia was 2 years and one-third of patients had had hypoglycaemic seizures (Doherty et al 1991). One patient was found to be comatose on the second morning after delivery (Garner & Tsang 1989). Difficulty was experienced maintaining her blood sugar because she had very high insulin levels. Insulin secretion, particularly during tumour handling, may produce hypoglycaemia under anaesthesia. Permanent neurological damage may result, but the approach to management of the blood sugar during surgery remains controversial. Techniques range from administering dextrose 25% via a central venous infusion, whilst checking the plasma glucose regularly (Chari et al 1977), to the use of an artificial pancreas (Pulver et al 1980, Roizen 1994). This device performs on-line glucose estimations and automatically administers glucose/insulin iv as necessary. Others have withheld glucose except when the blood glucose decreased below 3 mmol l­1 (Lamont & Jones I Insulinoma 270 Medical disorders and anaesthetic problems 1978). This was based on the premise that a rebound hyperglycaemia after insulinoma resection indicated complete removal of the tumour. Records of 38 operations for insulinomas in which glucose had not been given were studied (Muir et al 1983) They concluded that: provided the glucose was above 3. Patients with high insulin secretion who have poor cardiac function may not tolerate the requisite volumes of dextrose solutions to prevent hypoglycaemia (Utas et al 1993). Hyperglycaemia may occur for the first few postoperative days as a result of persistent high levels of hormones with hyperglycaemic effects. A possible interaction between diazoxide and thiopental has been suggested (Burch & McLeskey 1981). Two patients receiving diazoxide infusions developed hypotension on induction of anaesthesia. Diazoxide inhibits insulin release, has systemic vasodilator effects, and is strongly protein bound.

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Complications were found to be higher in men, those >45 years, those with a family history, and those with left atrial or left ventricular diameter 4 mm, or 6 mm, respectively. As valve function deteriorates, the click may disappear and the murmur become pansystolic. If gross regurgitation occurs during systole, left atrial dilatation and left ventricular hypertrophy may be present. Atrial and ventricular arrhythmias can occur and there are occasional reports of sudden death. However, the diagnosis is a nonspecific one, and would appear to cover a wide spectrum, with considerable variations in significance. A chance finding on echocardiography in thin, young patients who are asymptomatic, and in whom there is no regurgitation, is probably not of importance. In older patients who are symptomatic, and who have elongated or ruptured chordae tendinae, or M Mitral valve disease 326 Medical disorders and anaesthetic problems 5. Echocardiographic criteria require at least a 2-mm posterior movement in late systole. If regurgitation exists, distinction must also be made between chronic regurgitation, and the acute state secondary to sudden chordal rupture. A fluid challenge will reverse echocardiographic evidence of prolapse (Lax et al 1993). The importance of adequately preloading the patient, and fractionating the doses of local anaesthetic, were stressed. Hypotension secondary to sympathetic blockade should be treated with a dilute phenylephrine solution, or metaraminol, rather than ephedrine (adrenaline). Induced hypotension may also worsen the prolapse and should preferably not be used. The degree of valve prolapse is increased by anything that reduces ventricular volume, thus resulting in redundancy of the mitral leaflet. Some patients with mitral valve prolapse and no regurgitation at rest were found to have exerciseinduced regurgitation (Stoddard et al 1995). The following situations may accentuate mitral valve prolapse: a) Increased myocardial contractility. Most case reports are of unexpected atrial or ventricular arrhythmias arising in the perioperative period, and in more than half of the cases the diagnosis was made postoperatively on echocardiography (Krantz et al 1980, Thiagarajah & Frost 1983, Berry et al 1985). There have been occasional reports of ventricular fibrillation, profound bradycardia, and actual cardiac arrest (Cheng 1990). In one patient, two episodes of asystole occurred during attempted diagnostic extradural block (Abrahams & Lees 1989), although its association with mitral valve prolapse was unclear. In a child undergoing tonsillectomy, ventricular fibrillation occurred after halothane induction followed by atropine 0. Deshpande S 1998 Epidural analgesia for term vaginal delivery after balloon valvotomy for mitral stenosis at 24 weeks gestation. Schulte-Sasse U, Hess W,Tarnow J 1982 Pulmonary vascular responses to nitrous oxide in patients with normal and high pulmonary vascular resistance. Scott H, Bateman C, Price M 1998 the use of remifentanil in general anaesthesia for Caesarean section in a patient with mitral valve disease. Zuppiroli A, Rinaldi M, Kramer-Fox R et al 1995 Natural history of mitral valve prolapse. The face is flattened, and the teeth may be widely spaced and have defective enamel. Cardiac infiltration can affect both the mitral and aortic valves, and late-onset aortic regurgitation may occur. In an echocardiographic study of ten patients, 60% had abnormalities mainly involving the aortic or mitral valves (John et al 1990). However, these lesions were haemodynamically relatively mild and, in a study of Doppler flow mapping, only 33% were affected (Wipperman et al 1995). Excessive amounts of some metabolites of these substances are laid down in the body tissues and result in a variety of defects.

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The lungs, regional lymph nodes, and liver are the most common sites of metastasis. Each tumor is staged independently; prognosis with bilateral disease is not necessarily poor. The constellation of Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation. Neuroblastoma, rhabdomyosarcoma, Ewing sarcoma, lymphoblastic leukemia, and lymphoma. High-power microscopic examination, usually in combination with a panel of immunohistochemical stains and molecular diagnostics, is required for definitive diagnosis. These tumors arise in extraskeletal (soft tissue) locations and can locally invade the bone. Ewing sarcoma often metastasizes to the lungs and somewhat less frequently to other bones. In general, lymph nodes are not involved, which suggests that dissemination of this tumor is primarily hematogenous. Do all patients with osteosarcoma require surgical resection of the primary tumor? Surgical resection of the primary tumor is a requirement for curative treatment of osteosarcoma. In contrast to Ewing sarcoma, osteosarcoma is a relatively radiation-resistant tumor, and thus surgical resection after neoadjuvant chemotherapy is a mainstay of treatment. For patients with localized osteosarcoma, what factor is most predictive of a favorable outcome? Patients with more than 95% necrosis of the primary tumor (as determined by pathologic examination) after neoadjuvant chemotherapy have a better prognosis than those with lesser amounts of necrosis. Both are treated with neoadjuvant chemotherapy, which is an initial 2- to 3-month period of chemotherapy, followed by local control with surgery. Both tumors can develop distant metastases in the lungs and in other bones, and both tumors are cancers of adolescence. Although both Ewing sarcoma and osteosarcoma appear to be soft tissue tumors arising in bone, only osteosarcoma is truly a tumor of bone, whereas Ewing sarcoma is a primitive neuroectodermal tumor. In what solid tumor has the surgical resection of pulmonary metastases been shown to result in long-term cure? Although many pediatric sarcomas metastasize to the lungs, only surgical resection of pulmonary metastases from osteosarcoma has been definitively shown to contribute to cure, and only, in general, when the metastases are few in number. The role of the surgical resection of pulmonary metastases arising from other sarcomas. In an attempt to save as much natural tissue as possible, patients with soft tissue sarcomas often undergo a "limb salvage" surgery, in which cancerous tumor is removed from the bone without amputation. Because of the proximity of osteosarcomas to the knee joint, this often results in the removal of the joint as well. Patients who undergo a limb salvage procedure will require a prosthesis or crutches to ambulate. A soft tissue tumor that arises from cells that give rise to striated skeletal muscle. The four most common areas are as follows: (1) the head and neck; (2) the genitourinary region; (3) the extremities; and (4) the orbit. The survival rate for those with tumors in other areas is dependent on the amount, if any, of tumor left after resection and the presence or absence of metastatic disease. What sites of disease are associated with the best outcomes for children with rhabdomyosarcoma? Favorable locations include the orbit, the head and neck (except for parameningeal tumors), the vagina, and the biliary tract. Alveolar rhabdomyosarcoma, a name derived from its superficial appearance histologically to lung tissue, tends to occur in older children and adolescents. Most of these tumors carry the t(2;13) translocation, and they carry a higher risk for recurrence. Embryonal rhabdomyosarcomas tend to occur in younger children, and they are the predominant histology associated with favorable site tumors.

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A biopsy should always be taken before the resection since aneurysmal bone cysts can develop from another tumor. At any rate, the therapeutic consequences would be minimal if a wide resection is performed, whereas a curettage would be the wrong treatment in such cases. Synonyms: Histiocytic fibroma, fibroma, fibrous cortical defect, fibrous xanthoma, histiocytic xanthogranuloma Histologically the lesion consists of fibroblasts without atypia arranged in intertwining bundles and forming moderate amounts of collagen. Differential diagnosis: If the foci are small there is usually no doubt about the diagnosis. However, confusion with a desmoplastic fibroma is possible, and a chondromyxoid fibroma can produce a similar picture. Treatment, prognosis An asymptomatic non-ossifying bone fibroma does not require any treatment. Only very large, potentially destabilizing, fibromas will require, at most, curettage and filling with cancellous bone. Biopsy is required only very rarely in cases where the presence of pain cannot be fully explained. Monostotic fibrous dysplasia > Definition Benign, fibrous bone-forming lesion without cuboid osteoblast seams. In fact, it is the most common lesion in bone, and is observed in 20­30% of all children between the ages of 4 and 10 years [10]. On completion of growth, the fibromas either disappear or remain visible as sclerosed zones. Site, pathogenesis the non-ossifying bone fibromas are always located in the metaphyses, especially those near the knee, but also in the distal tibial metaphysis. Their etiology is unclear, although traumatic factors and overloading of the insertion sites of tendons and ligaments, combined with a local malfunction, probably play a role [43]. The lesions subsequently migrate in the direction of the diaphysis during the course of growth until they are remodeled by normal bone turnover processes. Clinical features, diagnosis Non-ossifying bone fibromas are completely asymptomatic. Exceptionally, very large fibromas can cause the bone to swell up and lead to a palpable thickening. The radiographic findings are so characteristic that the diagnosis can be reliably confirmed on the basis of plain x-rays, provided the tumor does not exceed a certain size. The x-ray reveals polycyclic, grapeshaped, relatively well-defined, defects surrounded by a clear sclerotic border (. The defect is aligned lengthwise with the bone and is often centered over the cortex (fibrous cortical defect). But it frequently also affects the medullary cavity (non-ossifying bone fibroma), when it is always located off-center. Provided the focus is small and takes up less than two-thirds of the bone width, no further investigation is required. Occurrence, site, pathogenesis Monostotic fibrous dysplasia is commoner than supposed, since many cases progress without symptoms. It is also commoner than polyostotic fibrous dysplasia, which accounts for 20% of cases [14], and has a prevalence of 2. X-rays of a non-ossifying bone fibroma of the proximal fibula of an 11-year old boy 607 4. Most commonly, the monostotic form affects the jaw and proximal femur, and occurs rather less frequently in the tibia, humerus, ribs, radius and iliac crest. The manifestation of the clinical picture (McCune-Albright syndrome, polyostostic or monostotic fibrous dysplasia) depends on the time at which the mutation occurs [1]. If the affected bone is covered only by a thin layer of soft tissue, a bulge may be palpable. Pain occurs only if fractures are present, or occasionally during periods of overexertion. In the medullary cavity there is a large osteolytic area interwoven with bone trabeculae (under magnification), producing a characteristic ground-glass opacity. Histologically the picture is dominated by irregularly shaped fibrous trabeculae embedded in a moderately cell-rich fibrous stroma. The trabeculae show flattened cells on the surface rather than cuboid osteoblasts.

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If necessary, important soft tissue structure must also be removed at the same time. The tumor should not be touched throughout the operation (»it should not see the light of day«). The access routes of earlier operations ­ for example biopsy channels ­ must likewise be removed. This is why the plan for the subsequent resection and reconstruction must be known even at the time of the biopsy, since a badly located biopsy scar can make it impossible to subsequently remove the tumor with a margin of healthy tissue without amputation. Depending on the spread of the tumor in each case, further specialists may need to be called in during the resection in order to perform a vessel- or nerve-bridging procedure or skin reconstruction. Close cooperation with vascular surgeons, plastic surgeons, and possibly neurosurgeons, is absolutely essential in a tumor center. Bridging options the following options are available for bridging a bony defect: autologous bone from another site. The two curves in a show the six-year survival rates before and after the introduction of the modern chemotherapy protocols for osteosarcomas. The probability of survival is currently over 60%, compared to less than 20% before 1980. The curves were produced on the basis of figures compiled from several European and American studies. Here too, the chances of survival have improved considerably since the introduction of the new treatment protocols. These curves were also based on figures from several European and American studies. The disadvantage of this method is that joint sections can be replaced only in exceptional cases. The removal of the fibula, leaving the most proximal and distal sections in situ, results in minimal impairment of load-bearing capacity and function of the lower leg. Some experiments have shown hypertrophy occurring only with vascularized grafts, not with free grafts [17]. However, clinical experience has long demonstrated that hypertrophy also occurs to a comparable extent with non-vascularized grafts [25] (. Moreover, fibular regeneration at the old site is much better after removal without a vascular pedicle and thus without periosteum as well (. The healing at the new site is also generally unproblematic without a primary vascular connection, at least in adolescents (. Once the fibula has healed, remodeling occurs over time with functional weightbearing, causing the transplanted fibula to adapt itself to the original bone. Particularly in the case of children, the surgeon must try and manage without the use of an artificial joint. If the proximal humerus has to be removed, together with the axillary nerve, as a result of a tumor, the implantation of a prosthesis is not a good solution since stable joint function is not possible without innervation of the deltoid muscle. The clavicle then forms the proximal humerus, while the acromioclavicular joint replaces the shoulder. While active shoulder mobility is, of course, restricted, the passive mobility is relatively good. Another example of the resection of as tumor with a margin of healthy tissue despite joint involvement is presented in Chapter 3. This female patient had a Ewing sarcoma of the pelvis, and half of the acetabulum had to be removed at resection, thereby interrupting the continuity of the pelvic ring. Anchoring a substitute material in the pelvis is particularly problematic because of the relatively soft bone and the prevailing shear forces. Loosening of the implant rapidly occurs, and this can result in almost insoluble problems, particularly in young patients. Once the acetabulum has integrated with the surrounding bone, a stable situation is produced for the long term. While this procedure is associated with the drawback of leg shortening, this can be corrected at a later stage. Whereas bone is severely destroyed by autoclaving, extracorporeal irradiation is very promising and represents a very effective alternative to prostheses and allografts, particularly for pelvic tumors [24]. The irradiated bone must be used in combination with an artificial joint since the devitalized cartilage is no longer usable as joint cartilage. Irradiated autologous bone, on the other hand (as with the non-vascularized fibula) appears to be revitalized.

Diseases

  • Floating-Harbor syndrome
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  • Spastic paraplegia type 4, dominant
  • Metaphyseal anadysplasia
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  • Schisis association
  • Monodactyly tetramelic

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Mitral valve prolapse and aortic root dilatation are the commonest (Hirata et al 1992). Mitral valve prolapse tends to be symptomatic, but aortic root dilatation is silent, unless there is dissection or aortic regurgitation. In the pregnant patient there is a risk of aortic arch dissection during labour or in the postpartum period. This risk is greatest in those who have significant cardiovascular disease at the start of pregnancy. However, in a recent random sample of 36 patients from one clinic, none of whom had symptoms related to a cardiovascular abnormality before conception, significant aortic events occurred in only six (four dissections and two progressive aortic root dilatations) (Lipscomb et al 1997). Obstetric problems include cervical incompetence, an abnormal placental site, and postpartum haemorrhage. There is a high incidence of sleep apnoea, in part as a result of maxillary abnormalities causing high nasal airway resistance (Cistulli et al 1996), and in part secondary to increased upper airway collapsibility (Cistulli & Sullivan 1995). The use of long-term beta adrenoceptor blockers slows the rate of aortic dilatation and reduces the development of complications in some patients (Shores et al 1994). Young patients may present to the emergency department in a collapsed state secondary to aortic dissection. A number of deaths have been reported in association with nonvascular surgery, but there was no consistent cause of death. In a study of 13 Medical disorders and anaesthetic problems M Marfan syndrome patients, two of four who died had been assessed as having no cardiovascular involvement (Verghese 1984). Hypotonia and ligamentous laxity may predispose the patient to accidental injury during anaesthesia. Scoliosis, sleep apnoea, hypotonia, a high incidence of emphysema, lung cysts, spontaneous pneumothoraces, and honeycomb lungs, all increase the risk of intra- and postoperative pulmonary complications. Midtracheal obstruction and respiratory distress occurred after Harrington rod placement in a patient with scoliosis (Mesrobian & Epps 1986). This was attributed to a combination of structural weakness of cartilage, and skeletal abnormalities. Obstructive sleep apnoea is thought to be caused by increased upper airway collapsibility secondary to the connective tissue defect (Cistulli & Sullivan 1995). If ascending aortic dilatation already exists, especially if it is greater than 6 cm in an adult, the risk of rupture is high and hypertensive peaks may predispose to aortic dissection (Pyeritz & McKusick 1979). Three weeks later, at total abdominal hysterectomy, hugely dilated vessels were found, with some thrombosis and fragmentation of the elastic lamina (Irons & Pollard 1993). Detailed examination of the cardiovascular system is essential and should include assessment of aortic size, and a search for evidence of aortic or mitral regurgitation, coronary artery disease, and heart failure. High pulsatile pressures must be avoided to reduce the risks of aortic dissection. Beta adrenoceptor blockers have been shown to decrease aortic stiffness and mean blood pressure. However, haemodynamic studies suggest that acute beta blockade is not necessarily beneficial (Yin et al 1989). Direct arterial monitoring may assist in the process of controlling sudden increases in blood pressure, but may carry a higher than normal risk of damage to the artery. Those with known cardiovascular involvement should be advised to delay pregnancy until after aortic root replacement (Oakley 1997); if already pregnant, therapeutic abortion may be prudent. In the absence of cardiovascular disease, the risks of aortic dissection are less, but monthly transthoracic echocardiography is recommended from the 6th week of gestation onwards (Lipscomb et al 1997). Vaginal delivery with epidural anaesthesia is advised for those with stable aortic measurements of <40 mm during pregnancy. Hypertension must be treated aggressively and 305 M Marfan syndrome 306 Medical disorders and anaesthetic problems beta blockade should be considered from midtrimester onwards. Each pregnancy is potentially high risk, and therefore needs combined obstetric, cardiology and anaesthetic care. One patient with aortic dissection was treated medically using glyceryl trinitrate, hydralazine, nifedipine, and labetalol (Jayaram et al 1995). The use of total intravenous anaesthesia with propofol has been described for elective Caesarean section, to stabilise maternal haemodynamics (Llopis et al 1997). Elkayam U, Ostrzega E, Shotan A et al 1995 Cardiovascular problems in pregnant women with the Marfan syndrome.

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This was confirmed by Waters et al (1995), who found that, in children, measures designed to relieve upper airway obstruction produced considerable improvement in sleep pattern, and a reduction in obstructive episodes. In adults, studies of lung volumes have shown that vital capacity is reduced out of proportion to that expected had the limb sizes been normal, but that the lungs and airways are functionally normal (Stokes et al 1990). The complication rate from this is higher than in the general population (Sisk et al 1999). Technical difficulties may be experienced during regional anaesthesia as a consequence of the skeletal defects (Nguyen et al 1997). A narrow spinal canal, and reduced width of the epidural space, increases the risk of both accidental dural puncture and an extensive epidural block. Engorged epidural veins also increase the likelihood of dural puncture, either by the needle or the catheter. Since neurological problems can develop spontaneously during the third and fourth decades, regional blockade should be approached with circumspect. Initial clinical symptoms of thoracolumbar involvement are lower limb motor weakness and low back pain, with sensory and sphincter disturbances occurring less frequently. Twenty-four patients with achondroplasia undergoing craniectomies were reviewed (Mayhew et al 1986). Out of 16 patients whose surgery was performed in the sitting position, nine had some degree of air embolism, whereas only one operated on in the prone position had such a problem. Six other major complications occurred; two patients had C1 level spinal cord infarctions, two had brachial plexus palsies, and one was extubated accidentally. The sixth patient, after developing severe oedema of the tongue, required tracheostomy. This was thought to be due to extreme flexion of the neck producing venous thrombosis (Mayhew et al 1985). A 6-month-old baby in the prone position had torrential haemorrhage, followed by air embolism and cardiac arrest (Kelleher & Medical disorders and anaesthetic problems A Achondroplasia Mackersie 1995). Visual loss occurred after prolonged spinal fusion surgery, in which a hypotensive technique was used whilst the patient was positioned head down (Roth et al 1997). Anaesthesia for Caesarean section may compound many of the problems identified above. In the later stages of pregnancy the supine position can be associated with severe aortocaval compression and respiratory embarrassment. Successful anaesthesia, using both general and epidural techniques, has been described. However, even if the technical difficulties of regional anaesthesia are overcome, it should be remembered that small doses of local anaesthetic given epidurally can produce extensive, and sometimes patchy, neural blockade. Problems were not encountered in all patients and Carstoniu et al (1992) emphasise that a woman must not be denied epidural anaesthesia, should the need for it arise. Problems secondary to chronic hydrocephalus were reported in a patient after a head injury (Dvorak et al 1993). Mayhew et al (1986) believe that size in children should be based on age, according to the formula: tube size (internal diameter in mm) = [age (years) + 16]/4. Extreme care should be taken to avoid hyperextension of the neck, which could result in brainstem compression. If venous access is required urgently, the posterior approach to the internal jugular vein has been recommended (Dvorak et al 1993). During neurosurgical procedures performed in the sitting position, great care should be taken to avoid air embolus (Katz & Mayhew 1985, Mayhew et al 1986). In addition, the prone position may be associated with heavy blood loss, and does not guarantee freedom from air embolism. Asystolic cardiac arrest occurred in a baby after a combination of torrential haemorrhage and air embolism during foramen magnum decompression. However, successful external cardiac massage was performed in the prone position and the baby survived without neurological deficit (Kelleher & Mackersie 1995). Whatever position is chosen for surgery, air embolism must be anticipated, diagnosed, and treated early. Care should be taken in positioning of the head to avoid ischaemic optic neuropathy. In late pregnancy, if breathing is compromised, blood gases should be taken before Caesarean section, to assess respiratory function.

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The "potty chair" is typically introduced when the child is between 2 and 3 years old. In the United States, about one fourth of children achieve daytime continence by 2 years and 98% by 3 years. Black parents believe training should be initiated around 18 months compared with 25 months for white parents. With regard to most other developmental milestones during the first years of life, however, there do not appear to be significant sex differences. Masturbation (the rhythmic self-manipulation of the genital area) is considered a normal part of sexual development. However, if masturbation occurs to the exclusion of other activities (compulsive masturbation), if it occurs in public places when the child is older than 6 years, or if the child engages in activities that mimic adult sexual behavior, evaluation for sexual abuse, central nervous system abnormalities, or psychological pathology would be appropriate. Although there are six fontanels present at birth (two anterior lateral, two posterior lateral, one anterior, and one posterior), only two (the anterior and posterior fontanels) are usually palpable on physical examination. No attempt is made to show molding or overlapping of bones, which sometimes occurs at birth. However, it may not be palpable as early as 3 months, or it may remain open until 18 months. Which conditions are most commonly associated with premature or delayed closure of the fontanel? Premature closure: Microcephaly, high calcium-to-vitamin D ratio in pregnancy, craniosynostosis, hyperthyroidism, or variation of normal Delayed closure: Achondroplasia, Down syndrome, increased intracranial pressure, familial macrocephaly, rickets, or variation of normal 47. The size of the fontanel can be calculated using the formula: (length ю width)/2, where length equals anterior-posterior dimension and width equals transverse dimension. However, there is wide variability in the normal size range of the anterior fontanel. These upper limits may be helpful for identifying disorders in which a large fontanel may be a feature. Of note is that the posterior fontanel is normally about the size of a fingertip or smaller in 97% of full-term newborns. Craniosynostosis is the premature fusion of various cranial suture lines that results in the ridging of the sutures, asymmetrical growth, and deformity of the skull. Suture lines (with resultant disorders listed in parentheses) include sagittal (scaphocephaly or dolichocephaly), coronal (brachycephaly), unilateral coronal or lambdoidal (plagiocephaly), and metopic (trigonocephaly). Multiple fused sutures can result in a high and pointed skull (oxycephaly or acrocephaly). Primary craniosynostosis may be observed as part of craniofacial syndromes, including Apert, Crouzon, and Carpenter syndromes. Secondary causes can include abnormalities of calcium and phosphorus metabolism. Williams H: Lumps, bumps and funny shaped heads, Arch Dis Child Educ Pract Ed 93:120­128, 2008. Therapy for severe cases consists of repositioning, physiotherapy, helmet treatment, and rarely surgery. American Academy of Pediatrics Committee on Practice and Ambulatory Medicine: Prevention and management of positional skull deformities in infants, Pediatrics 112:119­202, 2003. How is positional plagiocephaly differentiated from plagiocephaly caused by craniosynostosis? Factors distinguishing (left) positional plagiocephaly from (right) lambdoidal craniosynostosis. In this condition, abnormally soft, thin skull bones buckle under pressure and recoil like a ping-pong ball. It is best elicited on the parietal or frontal bones and is often associated with rickets in infancy. The extent of evaluation depends on various factors: prenatal versus postnatal acquisition, presence of minor or major anomalies, developmental problems, and neurologic abnormalities.

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The pinch grip must be restored with additional measures such as a metacarpophalangeal joint arthrodesis of the index finger and transfer of the extensor carpi radialis brevis as the thumb adductor. In any muscle transfer procedure, however, the surgeon must weigh the loss resulting from the removal of the muscle against the benefit obtained by the new function. Although the range of motion in the joints can often not be increased, it can be relocated so that the use of the extremity can be improved. At the same time it may prove necessary to treat both upper limbs asymmetrically in order to bring one side more in extension and the other more in flexion. Functional restrictions, however, tend to be present only in cases of fixed internal rotation, because the arm can no longer be controlled in a sideways direction (for the purposes of personal hygiene the orthopaedic treatment is primarily aimed at preserving mobility and avoiding contractures so that the muscles can resume their function under the optimal conditions. The main focus of conservative measures is on exercise-based treatments in the context of occupational therapy and/or physiotherapy. In addition to stretching and strengthening exercises, training is provided in the use of the limb for everyday tasks. Whereas some patients respond well to conservative measures, the deformity becomes progressively worse in others, ultimately resulting, for example, in a flexion contracture at the elbow with movement around the right angle, but with sufficient power remaining in the biceps brachii muscle. On the other hand, the elbow may stiffen in an extended position, which can significantly interfere with everyday functioning. In these cases, lengthening or transfer of the triceps brachii muscle, possibly combined with a flexor reconstruction, may be indicated. Often a severe flexion contracture at the wrist will already be present at birth, and sometimes fingers and thumb are also affected. Measures to correct this deformity must be initiated as soon as possible, with stretching exercises and splints. At a later stage, the wrist instability, and particularly the lack of dorsal flexion, will present a major problem. Stabilizing orthoses for the wrist can significantly improve the functioning of the hands (. Alternatively, a tendon transfer (transfer of the flexor carpi ulnaris posteriorly to the base of the 3rd metacarpal) can be offered. A wrist arthrodesis can produce positive effects and provide stability in the corrected position. A pronation contracture can be eliminated by a tenotomy of the pronator teres muscle. Often the thumb is adducted and the interdigital space between the 1st and 2nd rays is too narrow. If conservative stretching exercises prove unsuccessful, a reconstructive procedure to widen the interdigital space may be necessary to improve thumb abduction. At finger level, a distinction must be made between joint contractures and shortening of the finger flexors. If the range of motion of the fingers is improved with palmar flexion at the wrist, a contracture of the flexor muscles is present and tendon lengthening is indicated. In the windswept deformity the fingers deviate in the ulnar direction, are flexed at the metacarpophalangeal joint, while the other finger joints are stiff in flexion or extension. The deformity can be corrected by recentralizing the ulnar-deviating extensor tendons and transferring the ulnar interosseous muscles. In older children or in cases of more pronounced deformity, reconstructive procedures on the skin and corrective osteotomies on the metacarpals may also be required. For pronounced contractures, the necessary lengthening of the muscles can be achieved by bone shortening, either by a shortening osteotomy of the forearm or by resection of the proximal row of carpal bones. Post-polio syndrome On the upper extremity, the deltoid is the muscle most commonly affected in this disorder, although the muscles of the rotator cuff may also be paretic and possibly lead to an inferior shoulder dislocation. At the elbow, both flexors and extensors can show weaknesses while, at hand level, thumb opposition in particular is impaired. Autti-Ramo I, Larsen A, Peltonen J, Taimo A, von Wendt L (2000) Botulinum toxin injection as an adjunct when planning hand surgery in children with spastic hemiplegia.

References:

  • https://teaching.uncc.edu/sites/teaching.uncc.edu/files/media/files/file/GoalsAndObjectives/DevelopingLearningOutcomes.pdf
  • https://www.veterantraining.va.gov/apps/checkup/resources/documents/fact-sheet-sleep-apnea.pdf
  • https://www.ecohealthalliance.org/wp-content/uploads/2018/03/Virologica-Sinica-SARSr.pdf
  • http://www.paho.org/english/hdp/hdw/TraffickingPaper.pdf
  • https://www.entnet.org/sites/default/files/Oto-Primary-Care-WEB.pdf
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