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Among all inherited cystic kidney diseases, the commonest are polycystic kidney diseases, which include 2 diseases characterized by their pathological characteristics and their mode of inheritance, namely autosomal dominant or recessive. Autosomal dominant polycystic kidney disease is usually diagnosed in adulthood and is related at least to 2 different genes; PKD1 gene on chromosome 16 accounts for 85% of cases. This frequent disease (1 in 1,000 people) leads to end-stage renal failure in most patients at a mean age of 55 years. Renal ultrasonography allows its detection at an early stage, during childhood or adolescence, and even in utero in some cases. Autosomal recessive polycystic kidney disease, related to a single gene mapped to chromosome 6, is a rare disease, usually diagnosed during infancy because of enlarged kidneys and hypertension. The early occurrence of advanced renal failure is uncommon and only 1/3 of patients require renal replacement therapy during childhood. The term "polycystic kidney disease" should be limited to these 2 diseases; however there are many other inherited conditions including renal cysts like tuberous sclerosis or Hippel-Lindau's disease in adults, and several malformative syndromes in children.
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PMID:[Cystic kidney diseases]. 936 10

Congenital hyperthyroidism is a very rare disease. But, for each affected child it has to be considered as a serious condition because of the negative impact of hyperthyroidism on fetal and postnatal development. If the manifestation occurs during fetal life tachycardia, cardiac arrhythmia, growth retardation and, most significant, prematurity are the consequences. Postnatal signs of hyperthyroidism are irritability, tachycardia, hypertension, poor weight gain and thyroid enlargement. Even cardiac failure may occur if hyperthyroidism is severe and treatment not adequate which explains the high early mortality rate of 16%. The main complication of persistent hyperthyroidism in the neonatal period and during infancy is craniosynostosis. Severe developmental delay or even mental retardation can be the consequence of inadequate high T4-levels during fetal and neonatal life. Congenital hyperthyroidism was first recognized in infants born to mothers with Graves' disease. The description of transplacental passage of the maternal thyroid stimulating antibodies elucidated the molecular mechanism in this major group of patients with "autoimmune congenital hyperthyroidism". In contrast to this transient, self-limited character of "autoimmune congenital hyperthyroidism", due to the clearance of maternal antibodies from the infant's circulation, some cases of persistent congenital hyperthyroidism without signs of thyroid autoimmunity have been recognized. Activating mutations in the thyroid-stimulating hormone receptor were described recently as the underlying molecular pathogenesis in this group of "non-immune congenital hyperthyroidism". Therefore the possibility of a molecular differential diagnosis of both groups of congenital hyperthyroidism now exists and opens the opportunity of optimal treatment for each patient.
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PMID:Congenital hyperthyroidism. 943 7

Chronic encapsulated intracerebral hematoma (CEIH) is a rare disease which is believed to be caused by angiographically negative vascular malformations. CEIH has the following characteristic findings: 1. It affects all age groups 2. Clinical symptoms progress slowly after sudden onset. Often there is a latency of months or years 3. There is no correlation with arterial hypertension 4. Imaging reveals a typical fibrous capsule with enclosed blood contents and signs of recurrent bleedings 5. Cavernoma was identified histologically as the cause of bleeding in 30% of cases. 6. All patients had a primary diagnosis of intracerebral tumor. To the best of our knowledge, 27 cases have been reported in the literature. We now add two cases, one of which is the first in the available literature which was not operated and could be followed by imaging.
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PMID:Chronic encapsulated intracerebral hematoma--a well-defined disease. Report on two cases and review of the literature. 945 17

Compared to coarctation in the proximal descending aorta near the insertion of the ligamentum arteriosum, coarctation in the aortic arch, the lower descending or the abdominal aorta is a relatively rare disease. Operative treatment of abdominal coarctation is more complicated if there are concomitant stenoses of visceral or renal arteries. In young patients, surgical procedure and outcome is additionally determined by caliber and compliance mismatch between still growing native vessels and arterial substitute. Our report deals with a seven-year-old male patient, who was first diagnosed as having coarctation of the aorta at five years of age due to distinct bilateral brachial hypertension. The angiogram revealed a narrowing of the aorta, approximately ten centimeters in length, from the lower descending segment down to the proximal abdominal part of the aorta. The origin of the superior mesenteric artery and both renal arteries were not involved in the pathological process. Arterial reconstruction was carried out by anastomosis of cryopreserved arterial homograft with the thoracic aorta and with the abdominal aorta distal to the origin of the renal arteries. The postoperative course was uneventful, duplex sonography revealed no pressure gradient between the thoracic and abdominal aorta and brachial blood pressure was within normal ranges.
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PMID:Coarctation of the thoraco-abdominal aorta: operative treatment with a cryopreserved arterial homograft in a seven-year-old boy. 978 97

The antiphospholipid syndrome is a rare disease causing recurring arterial and/or venous thromboses at various sites with the first manifestations at a young age. A case report of a 46-year old man with the first venous system manifestations at the age of 19 before description of the syndrome in literature, is presented. The diagnosis was made when he was 44 years old. Bilateral stenoses in the carotid region and a rare manifestation of renal arteries involvement with renovascular hypertension developed. Critical stenosis of the left renal artery resulted in an afunctional left kidney, significant stenosis of the right renal artery was treated by angioplasty and stent implantation. The patient status stabilized only after intensive anticoagulant treatment with warfarin.
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PMID:[Antiphospholipid syndrome and vascular disease]. 1042 36

We analyzed the medical records of patients with an established diagnosis of acute renal infarction to identify predictive parameters of this rare disease. Seventeen patients (8 male) who were admitted to our emergency department between May 1994 and January 1998 were diagnosed by contrast-enhanced computed tomography (CT) as having acute renal infarction (0.007% of all patients). We screened the records of the 17 patients for a history with increased risk for thromboembolism, clinical symptoms, and urine and blood laboratory results known to be associated with acute renal infarction. A history with increased risk for thromboembolism with 1 or more risk factors was found in 14 of 17 patients (82%); risk factors were atrial fibrillation (n = 11), previous embolism (n = 6), mitral stenosis (n = 6), hypertension (n = 9), and ischemic cardiac disease (n = 7). All patients reported persisting pain predominantly from the flank (n = 11), abdomen (n = 4), and lower back (n = 2). On admission, elevated serum lactate dehydrogenase was found in 16 (94%) patients, and hematuria was found in 12 (71%) of 17 patients. After 24 hours all patients showed an elevated serum lactate dehydrogenase, and 14 (82%) had a positive test for hematuria. Our findings suggest that in all patients presenting with the triad--high risk of a thromboembolic event, persisting flank/abdominal/lower back pain, elevated serum levels of lactate dehydrogenase and/or hematuria within 24 hours after pain onset--contrast-enhanced CT should be performed as soon as possible to rule out or to prove acute renal infarction.
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PMID:Acute renal infarction. Clinical characteristics of 17 patients. 1057 21

Acute necrotizing esophagitis is a rare disease. Its pathogenesis is influenced by situations of low systemic perfusion, such as hypertension, heart failure or sepsis, in which other factors, such as the application of a nasal tube, infections or drugs also play a role. We present a case of acute necrotizing esophagitis in a patient with copious vomiting, renal failure, gastric hemorrhage due to Mallory-Weiss syndrome and esophageal infection due to Actinomyces. The patient was undergoing coadjuvant chemotherapy for a surgically-treated colonic neoplasia. Maintenance therapy produced favorable evolution with restoration of esophageal epithelium and no stenotic complications.
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PMID:[Acute necrotizing esophagitis]. 1072 88

Classic Cushing's syndrome is a rare disease with an estimated incidence of 1 case per 100,000 persons. With routine use of imaging techniques such as ultrasound and CT, adrenal masses are being detected with increased frequency. A substantial percentage of these incidentalomas are hormonally active, with 5% to 20% of the tumors producing glucocorticoids. Autonomous glucocorticoid production without specific signs and symptoms of Cushing's syndrome is termed subclinical Cushing's syndrome. With an estimated prevalence of 79 cases per 100,000 persons, subclinical Cushing's syndrome is much more common than classic Cushing's syndrome. Depending on the amounts of glucocorticoids secreted by the tumor, the clinical spectrum ranges from slightly attenuated diurnal cortisol rhythm to complete atrophy of the contralateral adrenal gland with lasting adrenal insufficiency after unilateral adrenalectomy. Patients with subclinical Cushing's syndrome lack the classical stigmata of hypercortisolism but have a high prevalence of obesity, hypertension, and type 2 diabetes. All patients with incidentally detected adrenal masses scheduled for surgery must undergo testing for subclinical Cushing's syndrome to avoid postoperative adrenal crisis. The best screening test to uncover autonomous cortisol secretion is the short dexamethasone suppression test. Because the adrenal origin of a pathologic cortisol secretion is anticipated, the author prefers a higher dexamethasone dose (3 mg instead of 1 mg) to reduce false-positive results. A suppressed serum cortisol level of less than 3 micrograms/dL (80 nmol/L) after dexamethasone excludes significant cortisol secretion by the tumor. A serum cortisol level greater than 3 micrograms/dL requires further investigation, including confirmation by high-dose dexamethasone (8 mg) suppression testing, a CRH test, and analysis of diurnal rhythm. Determination of urinary free cortisol is less useful because increased values are a late finding usually associated with emerging clinical signs of Cushing's syndrome. Patients with suppressed plasma ACTH in response to CRH generally have adrenal insufficiency after surgery and require adequate perioperative and postoperative substitution therapy. Whether patients with subclinical Cushing's syndrome should undergo adrenalectomy is a matter of debate. The author performs surgery in young patients (< 50 years), in patients with suppressed plasma ACTH, and in patients with a recent history of weight gain, substantial obesity, arterial hypertension, diabetes mellitus, and osteopenia. In completely asymptomatic patients with normal plasma ACTH concentrations and in patients older than 75 years, the author recommends a nonsurgical approach. A large prospective randomized study is necessary to evaluate the benefits of surgery versus conservative treatment in patients with subclinical Cushing's syndrome.
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PMID:Subclinical Cushing's syndrome. 1073 63

In Taiwan, a subtropical country without any history of heat waves, heat stroke has been considered a rare disease. However, after seeing several cases of the classic type of heat stroke at the end of the summer of 1998 (an unusual event) we began to review and collect cases of suspected heat stroke (hyperthermia (>40.6 degrees C) in the presence of altered mental status and anhidrosis) and tried to explore the possible cause of this unusual phenomenon. Through a emergency department (ED) chart review, case retraction from International Classification of Diseases (ICD) code, and ED conferences, six patients were found for the period from June to August (the hottest months in Taiwan) 1998. We found that the most common comorbid conditions were hypertension (4/6) and preexisting mental problems (3/6). All patients lived in the inner part of an urban area, were middle class, and were not socially isolated. Most of our patients felt unhealthy being exposed to the cold and avoided staying in air-conditioned rooms. Laboratory abnormalities and clinical presentations, except for a high fever and conscious change, seemed to be nonspecific. All cases occurred during two periods of sustained hotter-than-average weather and, to our surprise, we found that three episodes occurred around the day of the highest weather temperature (38.1 degrees C). However, the higher temperatures (around 30 degrees to 31 degrees C and 32 degrees to 33 degrees C) did not reach the criteria of a heat wave. Compared with the other study, our patients seemed to have initial worse outcomes. Because of special environment and social factors, classic heat stroke may occur occasionally in subtropic regions, without previous history of heat waves and where heat stroke rarely occurs, during periods of the persistently high temperatures. Prevention of heat stroke in an area with a low incidence includes early health organizations' issue of advisories or warnings through the media and reminding or teaching emergency physicians about heat stroke during sustained hot weather, especially when record temperatures are set.
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PMID:Heat stroke in a subtropical country. 1091 43

Hypertrophic cardiomyopathy (HCM) is a heterogeneous disease, characterized by asymmetric hypertrophy of the left and/or right ventricle with disarray of myocardial fibers. In order to know its clinical and electrocardiographic manifestation in the pediatric age group, we made a retrospective study of 24 cases from 1986 to 1995. There were: 15 girls and 9 boys, with a mean age of 6 years (age range: 1 month to 17 years). Clinical manifestations were dyspnea (71%), syncope (42%) and palpitations (42%). Physical examination disclosed an aortic systolic murmur in all patients, a mitral regurgitation in 42% and physical signs of congestive heart failure in 54% of patients. Chest X rays showed cardiac enlargement in 71% and pulmonary capillary hypertension in 42%. The most frequent ECG abnormalities were: a prolonged time in the intrinsecoid deflection onset on leads corresponding to the affected region, more or less deep and clean Q waves on leads aVF, aVL, V5 and V6, as well as supraventricular and ventricular rhythm disturbances in 11 patients (46%) with and without congestive heart failure. Bidimensional echocardiography confirmed antero-septal hypertrophy in all patients. The mortality rate was 17%. HCM is rare disease in the pediatric age group. Mortality increases when congestive heart failure and arrhythmias are present. Treatment must be individualized in all cases.
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PMID:[Electrocardiography and echocardiography aspects of hypertrophic myocardiopathy in pediatrics]. 1095 55


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